(used for variant description)
(last modified February 1, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_033100.3 in the CDHR1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028034.1, covering CDHR1 transcript NM_033100.3.
(upstream sequence)
g.4985
cccgcc c.-121
. . . . . . g.5045
gcggctgcagtcgccgctacccccattgtggtctctgccctccccgcgggcccagggcat c.-61
. . . . . . g.5105
gctccgtgcccctgcgcccggtctcggcggcggcaggcgacactccgcgccggcggagac c.-1
. . . . . | 02 . g.5843
ATGAGGCGCTGCCGGTGGGCCGCCCTGGCCCTGGGGCTGCTGCGCCTCTGCTTGG | CTCAG c.60
M R R C R W A A L A L G L L R L C L A | Q p.20
. . . . . . g.5903
GCCAACTTCGCCCCGCACTTCTTCGACAACGGGGTCGGCAGCACCAACGGAAACATGGCT c.120
A N F A P H F F D N G V G S T N G N M A p.40
. . . | 03 . . . g.6878
CTGTTCAGCCTCCCAGAGGACACCCCTGTAG | GCTCTCACGTATACACCCTGAATGGGACA c.180
L F S L P E D T P V G | S H V Y T L N G T p.60
. . . . . . g.6938
GACCCTGAGGGAGACCCCATCTCCTACCACATCAGCTTTGACCCCAGCACTAGAAGCGTC c.240
D P E G D P I S Y H I S F D P S T R S V p.80
. . . . . | 04. g.8133
TTTTCTGTTGACCCCACTTTTGGAAACATCACCCTGGTTGAAGAGCTGGACAGAGAG | AGG c.300
F S V D P T F G N I T L V E E L D R E | R p.100
. . . . | 05 . g.9388
GAAGATGAGATTGAAGCCATCATCAGCATTTCTGATGGCCTGAATCTG | GTGGCCGAAAAA c.360
E D E I E A I I S I S D G L N L | V A E K p.120
. . . . . . g.9448
GTCGTGATCCTGGTGACCGATGCCAATGATGAGGCGCCCAGGTTCATCCAGGAGCCTTAT c.420
V V I L V T D A N D E A P R F I Q E P Y p.140
. | 06 . . . . g.10987
GTTGCCCTGGTTCCCGAG | GACATACCTGCTGGGAGCATCATCTTTAAGGTCCATGCAGTG c.480
V A L V P E | D I P A G S I I F K V H A V p.160
. . . . | 07 . . g.12166
GACAGGGACACAGGCTCTGGAGGGAGTGTCACCTACTTCCTGCAG | AACCTGCACTCCCCA c.540
D R D T G S G G S V T Y F L Q | N L H S P p.180
. . . . . . g.12226
TTTGCCGTGGACCGCCACAGCGGTGTGCTGCGCCTCCAGGCTGGGGCCACTCTGGACTAC c.600
F A V D R H S G V L R L Q A G A T L D Y p.200
. . . | 08 . . g.13345
GAGAGGTCCCGGACCCACTACATCACCGTGGTCGCCAAG | GATGGCGGTGGGAGGCTTCAT c.660
E R S R T H Y I T V V A K | D G G G R L H p.220
. . . . . . g.13405
GGGGCTGATGTGGTGTTCTCAGCCACCACCACGGTCACGGTCAATGTGGAGGATGTTCAG c.720
G A D V V F S A T T T V T V N V E D V Q p.240
. . . . . . g.13465
GACATGGCCCCTGTCTTCGTGGGCACACCCTACTATGGCTATGTGTACGAGGACACCCTT c.780
D M A P V F V G T P Y Y G Y V Y E D T L p.260
| 09 . . . . . . g.14928
CCG | GGCTCGGAGGTACTGAAGGTGGTCGCCATGGATGGAGACCGGGGCAAACCCAATCGA c.840
P | G S E V L K V V A M D G D R G K P N R p.280
. . | 10 . . . . g.16209
ATTCTCTACAGCCTTGTAAATG | GGAACGATGGAGCCTTTGAAATTAATGAGACATCTGGA c.900
I L Y S L V N G | N D G A F E I N E T S G p.300
. . . . . . g.16269
GCCATCTCCATCACTCAGAGCCCGGCCCAGCTCCAGAGAGAGGTGTATGAGCTGCATGTA c.960
A I S I T Q S P A Q L Q R E V Y E L H V p.320
| 11 . . . . . . g.18575
CAG | GTGACTGAAATGAGCCCTGCGGGGAGCCCAGCTGCCCAGGCCACCGTCCCAGTCACC c.1020
Q | V T E M S P A G S P A A Q A T V P V T p.340
. . . . . . g.18635
ATCAGGATTGTGGACCTCAACAACCACCCGCCAACATTCTATGGAGAGAGCGGACCCCAA c.1080
I R I V D L N N H P P T F Y G E S G P Q p.360
. . . . . . g.18695
AACAGGTTTGAGCTGTCCATGAATGAGCACCCACCCCAGGGAGAGATCCTGCGGGGCCTC c.1140
N R F E L S M N E H P P Q G E I L R G L p.380
. . | 12. . . . g.19106
AAGATCACCGTCAATGACTCCGACCAG | GGAGCCAATGCCAAATTCAACTTGCAGCTGGTG c.1200
K I T V N D S D Q | G A N A K F N L Q L V p.400
. . . . . . g.19166
GGACCCAGGGGCATCTTCCGAGTGGTTCCACAGACAGTCCTGAATGAAGCCCAAGTCACA c.1260
G P R G I F R V V P Q T V L N E A Q V T p.420
. . . . . . g.19226
ATCATTGTGGAGAACTCAGCTGCCATTGACTTTGAAAAGTCCAAAGTATTAACCTTCAAG c.1320
I I V E N S A A I D F E K S K V L T F K p.440
| 13 . . . . . . g.21405
| CTCCTGGCTGTTGAAGTGAACACCCCAGAGAAGTTCAGTTCCACAGCGGATGTTGTGATC c.1380
| L L A V E V N T P E K F S S T A D V V I p.460
. . . . . . g.21465
CAGCTCCTGGACACCAATGACAATGTCCCCAAGTTCGACTCCCTCTACTACGTTGCCAGG c.1440
Q L L D T N D N V P K F D S L Y Y V A R p.480
. . . . | 14 . . g.22007
ATTCCTGAGAACGCCCCAGGGGGCTCCAGCGTGGTGGCTGTCACA | GCTGTGGATCCAGAT c.1500
I P E N A P G G S S V V A V T | A V D P D p.500
. . . . . | 15 . g.22530
ACAGGACCCTGGGGCGAAGTGAAATATTCCACCTATGGGACTGGGGCAGACCT | CTTCCTG c.1560
T G P W G E V K Y S T Y G T G A D L | F L p.520
. . . . . . g.22590
ATCCACCCATCCACTGGGCTTATCTACACCCAGCCCTGGGCTAGCCTGGACGCTGAGGCC c.1620
I H P S T G L I Y T Q P W A S L D A E A p.540
. . . . . . g.22650
ACTGCCAGGTACAACTTCTATGTGAAGGCAGAGGACATGGAAGGCAAGTACAGCGTAGCT c.1680
T A R Y N F Y V K A E D M E G K Y S V A p.560
. . . . . . g.22710
GAGGTGTTTATCACACTGCTGGATGTCAATGACCACCCCCCTCAGTTTGGAAAGAGCGTT c.1740
E V F I T L L D V N D H P P Q F G K S V p.580
. . . . | 16 . . g.23453
CAGAAGAAGACGATGGTGCTAGGGACCCCAGTGAAAATTGAG | GCCATAGACGAGGATGCA c.1800
Q K K T M V L G T P V K I E | A I D E D A p.600
. . . . . . g.23513
GAGGAACCCAACAACCTGGTGGACTATTCCATCACCCATGCAGAGCCCGCCAACGTGTTC c.1860
E E P N N L V D Y S I T H A E P A N V F p.620
. . . . . . g.23573
GACATCAATTCCCACACGGGGGAGATCTGGCTCAAGAATTCCATCCGCTCCCTGGATGCC c.1920
D I N S H T G E I W L K N S I R S L D A p.640
. . . . . . g.23633
CTGCACAACATCACACCTGGAAGGGACTGCCTATGGTCCCTAGAGGTGCAGGCCAAGGAC c.1980
L H N I T P G R D C L W S L E V Q A K D p.660
. . . . . . g.23693
CGGGGCTCCCCATCCTTCAGCACCACAGCCTTACTCAAGATTGACATCACAGATGCTGAG c.2040
R G S P S F S T T A L L K I D I T D A E p.680
| 17 . . . . . . g.24486
| ACCCTCTCCCGGAGCCCCATGGCTGCCTTCCTGATACAGACCAAGGACAACCCCATGAAG c.2100
| T L S R S P M A A F L I Q T K D N P M K p.700
. . . . . . g.24546
GCCGTGGGTGTGCTGGCCGGCACCATGGCCACCGTCGTGGCCATCACTGTCCTCATCTCC c.2160
A V G V L A G T M A T V V A I T V L I S p.720
. . . . . . g.24606
ACCGCCACCTTCTGGCGCAACAAGAAGTCTAACAAGGTCCTGCCAATGCGGCGGGTGCTC c.2220
T A T F W R N K K S N K V L P M R R V L p.740
. . . . . . g.24666
CGCAAGCGGCCCAGCCCTGCGCCCCGCACCATCCGCATTGAGTGGCTCAAGTCCAAGAGC c.2280
R K R P S P A P R T I R I E W L K S K S p.760
. . . . . . g.24726
ACCAAAGCCGCTACCAAGTTCATGCTCAAAGAGAAACCTCCCAATGAGAACTGTAACAAC c.2340
T K A A T K F M L K E K P P N E N C N N p.780
. . . . . . g.24786
AACAGCCCAGAAAGCTCTCTGCTCCCGAGAGCTCCGGCTCTCCCTCCACCACCCAGCGTG c.2400
N S P E S S L L P R A P A L P P P P S V p.800
. . . . . . g.24846
GCGCCCAGCACTGGCGCAGCCCAGTGGACCGTGCCTACTGTCTCTGGCTCTCTCACTCCG c.2460
A P S T G A A Q W T V P T V S G S L T P p.820
. . . . . . g.24906
CAGCCGACCCAACCCCCGCCAAAACCCAAAACTATGGGAAGCCCCGTCCAGTCAACTCTG c.2520
Q P T Q P P P K P K T M G S P V Q S T L p.840
. . . . . . g.24966
ATCTCTGAGCTCAAGCAAAAGTTTGAGAAGAAGAGTGTGCACAACAAGGCTTACTTCTAG c.2580
I S E L K Q K F E K K S V H N K A Y F X p.859
. . . . . . g.25026
tgtatgccctatgaccccccatctttcctccgcccctgacccccaccaccctgctgctcg c.*60
. . . . . . g.25086
gactatgctccccttcctctgctccttaaggtcactgacccctgttttgcacaatggtat c.*120
. . . . . . g.25146
aatccccactgtcctcatctctaccgccaccttctggcgcaacaagaagttgcgctctga c.*180
. . . . . . g.25206
cagggctctagtcagggccttgggcaagacattgggctctaggatgcaattggcaaatac c.*240
. . . . . . g.25266
gtccccgttactcaaatccttggcactactacaatgccctccattcttcagggctgagaa c.*300
. . . . . . g.25326
ttgacgagaagccagctcacccatcccagacctcacagtccctcaggttctactgggatc c.*360
. . . . . . g.25386
tcatcatcatccttagtcaagcagcagggccctggccacgtggagcaacactgactagaa c.*420
. . . . . . g.25446
tctggatcctgacgcctgcagctgagagcaggagcaggaaaaggaggctcagcactgtct c.*480
. . . . . . g.25506
caggctggaggtcagcgaacctcgtgggctgtaggaaagcaaatgtaggtaaggggagag c.*540
. . . . . . g.25566
caaggatgcacagaaaacacactgactgtgggactgtgccaggatgcatttggaaagata c.*600
. . . . . . g.25626
gagcattctgtctgggcagagactgtggaccctggtatgcccacgtgggacagaggacac c.*660
. . . . . . g.25686
agaggtggaagattgatcttgccaagagtgagggcagatgtctccagccaggactgccct c.*720
. . . . . . g.25746
gagccgcaaaatgtcaaagctggagctatagaggtagccctaaaggcaactagaagagca c.*780
. . . . . . g.25806
tcagggctgctctctgaggagctgccccaccagccatccttgaagagacaattcagggca c.*840
. . . . . . g.25866
gttgatgaatatcagggctgagatgtggtgagacttccgtttttatccagctcttttgct c.*900
. . . . . . g.25926
cacatcgcgtaaccttgggaaagctgtttaaagtcgctgatcatcctcttcctcatctgt c.*960
. . . . . . g.25986
aaatgaagaaagtaggccctgtctacctcacatgcaggtctagggtgaggattgaagaaa c.*1020
. . . . . . g.26046
atagtggtgatgagggctttaaccaagtgcaaagcggcatgaatgcaaagtatttttctg c.*1080
. . . . . . g.26106
cagcccagttctgtgggtgcagctcttccagaaagtattaggagcctcacatctactctg c.*1140
. . . . . . g.26166
ccaagcgccccagcaggcactgtgctgggcttaggggctaccactggatgatggcattgc c.*1200
. . . . . . g.26226
cgtgactcacacacctctacttctgttcttccctcactccatccccgctaccgtcctggc c.*1260
. . . . . . g.26286
cagctaccgtcagagagaaccagagctccaagtctttaatttgccaagatgaagaaaatg c.*1320
. . . . . . g.26346
agttctcaaggagggaatgctttgcttgaggccacacagcaggttggtagcaaagatctt c.*1380
. . . . . . g.26406
gtctagccagggcagcccttatcagcttgtgacaaccttccccaggacagaagtcataca c.*1440
. . . . . . g.26466
aggcctctggggttaatacaaataggttgtgccctgctttaaggaacctgctatcaggaa c.*1500
. . . . . . g.26526
atctacatgtgtgcacagagagagaaaagtagaacagttctttgcatttggctctactta c.*1560
. . . . . . g.26586
ctaacaacccctctagaatacattggtgatttcatttaaagagattgtatgcatttgtgg c.*1620
. . . . . . g.26646
ctttcctgatttctgagtctgtgtttggaggtgttactgagatgtgccagtgtgcagaat c.*1680
. . . . . . g.26706
ccttgctggggtttctacagtccccaacgtgaacagtattaagcaagaggtggactcgag c.*1740
. . . . . . g.26766
caatccaggagcccagactgagcaaataagtactttccagcctgtgtttcaggagaggac c.*1800
. . . . . . g.26826
tgtgctggatcatgcttgccctccacagggaatacagcatccttacagcttgcatgcaat c.*1860
. . . . . . g.26886
caacctcttttgtaaatggaaaataaagtctgttacccaaaggccatgctgatcccctgc c.*1920
. . . . . . g.26946
tccctgctttcatttatgtttgctgacctgtggagaccagtctttctgacacacagtgaa c.*1980
. . . . . . g.27006
gctcaacttgcctcctggctgcttcagcaggtggatccattcttcgacccccagatgtga c.*2040
. . . . . . g.27066
ctctaaagaaggctgaaaatttttgtccaaattgccatgcagatatcttgaacagcagga c.*2100
. . . . . . g.27126
catttgcaggccttgtctactggacttttctcccaaacaggacaagcccaggcagggctg c.*2160
. . . . . . g.27186
catggagaggaatggaacctggagctagaattaattgcccactctcccaccctaccagtg c.*2220
. . . . . . g.27246
cagcccggcaagggcaggaattgggaggcctagggtgggcatgaaagcttgggaagcact c.*2280
. . . . . . g.27306
gtcgtctctcagacaggcgtcctaaagacctctaggctggaagcttgggcttgcaagtgg c.*2340
. . . . . . g.27366
atccgggaccgagggtggtctcttggacaaccccaggaacttggaccaaggcagagccaa c.*2400
. . . . . . g.27426
tcttgcaaactggccatggatggggaagtgcccggtagccagcatgagccacactaggaa c.*2460
. . . . . . g.27486
agaggaggagggtgcagccaaacttaaggcaccggcaagtgttgtcagcactggaggaga c.*2520
. . . . . . g.27546
ccccgccagtggggtgaggccagccaagtccctgtgttacgaatggtgggccaaggggct c.*2580
. . . . . . g.27606
gtctgctaggtcccagtaggacaggcagagctccaggctggcaccatggtaggcctccag c.*2640
. . . . . . g.27666
ggaaagagctgggaggcaggaatggcacactgggcaggcttgcccattcctggccctgag c.*2700
. . . . . . g.27726
aatggagctgtagcctcatggacaataaatggatgtgacaccaaatactctgcagagtca c.*2760
. . . . . . g.27786
ttttcctcctgcggctgagctcagatcttccaatcacgtgaaataacaaagtcctttaca c.*2820
. . . . . . g.27846
gtttgacagccctaggtctgaattctggttctgccattaattgtgactttgggcaagagg c.*2880
. . . . . . g.27906
tcaagtctctctgggcctcactttcctcattaacacagggtgcaaagtatggttgcagag c.*2940
. . . . . . g.27966
aggatgaaaagatctaatatatgtaaagtgcctagcaccggctttgtatctacttacaca c.*3000
. . . . . . g.28026
agctcagtagacacttgccgtgactgtggcccacatactagaacaccatgtcctgaaaga c.*3060
. . . . . . g.28086
gaggaccccctccatgcatcctcaccccccaggatgtttccacccacctgtaggtccaga c.*3120
. . . . . . g.28146
agcttttacttcatgctagaaaaagagaagagagtggatccagaggggagtggaggacag c.*3180
. . . . . . g.28206
ggcagatgccacagcatctgtggcctgtgtagccggcagcctgcatttgggcgttgacat c.*3240
. . . . . . g.28266
tccaggggagttaggaacaatgagaggtctctaagaacttgtggcactctgtcctcaagc c.*3300
. . . . . . g.28326
agctgtccctcagaatcctgctagaaaagtgtgatcagagctgggaaggagccaccatgc c.*3360
. . . . . . g.28386
tctgcttctctaaggatttcggtgattctatttttagggactgaaggcgttgagggaatc c.*3420
. . . . . . g.28446
caaggccagtccacctgccaggggtgttggcatctgttgacaggcagtggcacatcctga c.*3480
. . . . . . g.28506
cagtcttcaaggccttggccaccaagggatggagagggagaatggagaagatgccacatg c.*3540
. . . . . . g.28566
aggaatgaggcaggagactggcatgtgccacatggaggaccccttaggaaactcacaaac c.*3600
. . . . . . g.28626
aacctagggaggggttctctgaagggcctagtttccagaatgaggcggtcatggcttaag c.*3660
. . . . . . g.28686
cgaccatcatttgatcaataaagcagagtagcaacaggctgatgttggggacatcggttt c.*3720
. . . . . . g.28746
gatgttataaaatcgtgcacatgtaccccttttgaggcctgaatgaggttcggttattta c.*3780
. . . . . . g.28806
ttcatttctcaataatttactcagccattcctagggtgacaagtttggagtatatcttct c.*3840
. . . . . . g.28866
gtgccaggctctcttctaggtgttaggtgtatgtctctaacaagatagaaggaaagaaga c.*3900
. . . . . . g.28926
aaagaaaaagaacaacattcctctctttaattgctaatcgcctgggcctagggagtcttc c.*3960
. . . . . . g.28986
attttaaaagcaagtagccctgcttacaaatgtctcctcaatcaaaggcatttgccttaa c.*4020
. . . . . g.29041
acttgtatggtctaaactctaaataaataagcttctcaagggcatgacaactata c.*4075
(downstream sequence)
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