(used for variant description)
(last modified April 6, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001797.2 in the CDH11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering CDH11 transcript NM_001797.2.
(upstream sequence)
. g.5014
agatgccgcggggg c.-421
. . . . . . g.5074
ccgctcgcagccgccgctgacttgtgaatgggaccgggactggggccgggactgacaccg c.-361
. . . . . . g.5134
cagcgcttgccctgcgccagggactggcggctcggaggttgcgtccaccctcaagggccc c.-301
. | 02 . . . . . g.73145
cag | aaatcactgtgttttcagctcagcggccctgtgacattccttcgtgttgtcatttgt c.-241
. . . . . . g.73205
tgagtgaccaatcagatgggtggagtgtgttacagaaattggcagcaagtatccaatggg c.-181
. | 03. . . . . g.122027
tgaagaag | aagctaactggggacgtgggcagccctgacgtgatgagctcaaccagcagag c.-121
. . . . . . g.122087
acattccatcccaagagaggtctgcgtgacgcgtccgggaggccaccctcagcaagacca c.-61
. . . . . . g.122147
ccgtacagttggtggaaggggtgacagctgcattctcctgtgcctaccacgtaaccaaaa c.-1
. . . . . . g.122207
ATGAAGGAGAACTACTGTTTACAAGCCGCCCTGGTGTGCCTGGGCATGCTGTGCCACAGC c.60
M K E N Y C L Q A A L V C L G M L C H S p.20
. . . . . . g.122267
CATGCCTTTGCCCCAGAGCGGCGGGGGCACCTGCGGCCCTCCTTCCATGGGCACCATGAG c.120
H A F A P E R R G H L R P S F H G H H E p.40
. . . . . . g.122327
AAGGGCAAGGAGGGGCAGGTGCTACAGCGCTCCAAGCGTGGCTGGGTCTGGAACCAGTTC c.180
K G K E G Q V L Q R S K R G W V W N Q F p.60
. . . . | 04 . g.128172
TTCGTGATAGAGGAGTACACCGGGCCTGACCCCGTGCTTGTGGGCAGG | CTTCATTCAGAT c.240
F V I E E Y T G P D P V L V G R | L H S D p.80
. . . . . . g.128232
ATTGACTCTGGTGATGGGAACATTAAATACATTCTCTCAGGGGAAGGAGCTGGAACCATT c.300
I D S G D G N I K Y I L S G E G A G T I p.100
. . . . . . g.128292
TTTGTGATTGATGACAAATCAGGGAACATTCATGCCACCAAGACGTTGGATCGAGAAGAG c.360
F V I D D K S G N I H A T K T L D R E E p.120
. . . . . . g.128352
AGAGCCCAGTACACGTTGATGGCTCAGGCGGTGGACAGGGACACCAATCGGCCACTGGAG c.420
R A Q Y T L M A Q A V D R D T N R P L E p.140
. . . . . . g.128412
CCACCGTCGGAATTCATTGTCAAGGTCCAGGACATTAATGACAACCCTCCGGAGTTCCTG c.480
P P S E F I V K V Q D I N D N P P E F L p.160
. . . . | 05 . . g.133999
CACGAGACCTATCATGCCAACGTGCCTGAGAGGTCCAATGTGG | GAACGTCAGTAATCCAG c.540
H E T Y H A N V P E R S N V G | T S V I Q p.180
. . . . . . g.134059
GTGACAGCTTCAGATGCAGATGACCCCACTTATGGAAATAGCGCCAAGTTAGTGTACAGT c.600
V T A S D A D D P T Y G N S A K L V Y S p.200
. . . . | 06 . . g.135098
ATCCTCGAAGGACAACCCTATTTTTCGGTGGAAGCACAGACAG | GTATCATCAGAACAGCC c.660
I L E G Q P Y F S V E A Q T G | I I R T A p.220
. . . . . . g.135158
CTACCCAACATGGACAGGGAGGCCAAGGAGGAGTACCACGTGGTGATCCAGGCCAAGGAC c.720
L P N M D R E A K E E Y H V V I Q A K D p.240
. . . . . . g.135218
ATGGGTGGACATATGGGCGGACTCTCAGGGACAACCAAAGTGACGATCACACTGACCGAT c.780
M G G H M G G L S G T T K V T I T L T D p.260
. . . | 07 . . . g.138701
GTCAATGACAACCCACCAAAGTTTCCGCAGA | GCGTATACCAGATGTCTGTGTCAGAAGCA c.840
V N D N P P K F P Q S | V Y Q M S V S E A p.280
. . . . . . g.138761
GCCGTCCCTGGGGAGGAAGTAGGAAGAGTGAAAGCTAAAGATCCAGACATTGGAGAAAAT c.900
A V P G E E V G R V K A K D P D I G E N p.300
. . . . . . g.138821
GGCTTAGTCACATACAATATTGTTGATGGAGATGGTATGGAATCGTTTGAAATCACAACG c.960
G L V T Y N I V D G D G M E S F E I T T p.320
. . . | 08 . . g.144736
GACTATGAAACACAGGAGGGGGTGATAAAGCTGAAAAAG | CCTGTAGATTTTGAAACCAAA c.1020
D Y E T Q E G V I K L K K | P V D F E T K p.340
. . . . . . g.144796
AGAGCCTATAGCTTGAAGGTAGAGGCAGCCAACGTGCACATCGACCCGAAGTTTATCAGC c.1080
R A Y S L K V E A A N V H I D P K F I S p.360
. . . . . . g.144856
AATGGCCCTTTCAAGGACACTGTGACCGTCAAGATCTCAGTAGAAGATGCTGATGAGCCC c.1140
N G P F K D T V T V K I S V E D A D E P p.380
. . . . . . g.144916
CCTATGTTCTTGGCCCCAAGTTACATCCACGAAGTCCAAGAAAATGCAGCTGCTGGCACC c.1200
P M F L A P S Y I H E V Q E N A A A G T p.400
. . . . . | 09 . g.153983
GTGGTTGGGAGAGTGCATGCCAAAGACCCTGATGCTGCCAACAGCCCGATAAG | GTATTCC c.1260
V V G R V H A K D P D A A N S P I R | Y S p.420
. . . . . . g.154043
ATCGATCGTCACACTGACCTCGACAGATTTTTCACTATTAATCCAGAGGATGGTTTTATT c.1320
I D R H T D L D R F F T I N P E D G F I p.440
. . . . . . g.154103
AAAACTACAAAACCTCTGGATAGAGAGGAAACAGCCTGGCTCAACATCACTGTCTTTGCA c.1380
K T T K P L D R E E T A W L N I T V F A p.460
. | 10 . . . . . g.155002
GCAGAAATCC | ACAATCGGCATCAGGAAGCCAAAGTCCCAGTGGCCATTAGGGTCCTTGAT c.1440
A E I H | N R H Q E A K V P V A I R V L D p.480
. . . . . . g.155062
GTCAACGATAATGCTCCCAAGTTTGCTGCCCCTTATGAAGGTTTCATCTGTGAGAGTGAT c.1500
V N D N A P K F A A P Y E G F I C E S D p.500
. . | 11 . . . . g.155356
CAGACCAAGCCACTTTCCAACCAG | CCAATTGTTACAATTAGTGCAGATGACAAGGATGAC c.1560
Q T K P L S N Q | P I V T I S A D D K D D p.520
. . . . . . g.155416
ACGGCCAATGGACCAAGATTTATCTTCAGCCTACCCCCTGAAATCATTCACAATCCAAAT c.1620
T A N G P R F I F S L P P E I I H N P N p.540
. . | 12 . . . . g.176036
TTCACAGTCAGAGACAACCGAG | ATAACACAGCAGGCGTGTACGCCCGGCGTGGAGGGTTC c.1680
F T V R D N R D | N T A G V Y A R R G G F p.560
. . . . . . g.176096
AGTCGGCAGAAGCAGGACTTGTACCTTCTGCCCATAGTGATCAGCGATGGCGGCATCCCG c.1740
S R Q K Q D L Y L L P I V I S D G G I P p.580
. . . . . . g.176156
CCCATGAGTAGCACCAACACCCTCACCATCAAAGTCTGCGGGTGCGACGTGAACGGGGCA c.1800
P M S S T N T L T I K V C G C D V N G A p.600
. . . . . . g.176216
CTGCTCTCCTGCAACGCAGAGGCCTACATTCTGAACGCCGGCCTGAGCACAGGCGCCCTG c.1860
L L S C N A E A Y I L N A G L S T G A L p.620
. . . | 13 . . . g.178943
ATCGCCATCCTCGCCTGCATCGTCATTCTCCTGG | TCATTGTAGTATTGTTTGTGACCCTG c.1920
I A I L A C I V I L L V | I V V L F V T L p.640
. . . . . . g.179003
AGAAGGCAAAAGAAAGAACCACTCATTGTCTTTGAGGAAGAAGATGTCCGTGAGAACATC c.1980
R R Q K K E P L I V F E E E D V R E N I p.660
. . . . . . g.179063
ATTACTTATGATGATGAAGGGGGTGGGGAAGAAGACACAGAAGCCTTTGATATTGCCACC c.2040
I T Y D D E G G G E E D T E A F D I A T p.680
. . . . . . g.179123
CTCCAGAATCCTGATGGTATCAATGGATTTATCCCCCGCAAAGACATCAAACCTGAGTAT c.2100
L Q N P D G I N G F I P R K D I K P E Y p.700
. . . . . . g.179183
CAGTACATGCCTAGACCTGGGCTCCGGCCAGCGCCCAACAGCGTGGATGTCGATGACTTC c.2160
Q Y M P R P G L R P A P N S V D V D D F p.720
. . . . . . g.179243
ATCAACACGAGAATACAGGAGGCAGACAATGACCCCACGGCTCCTCCTTATGACTCCATT c.2220
I N T R I Q E A D N D P T A P P Y D S I p.740
. . . . . . g.179303
CAAATCTACGGTTATGAAGGCAGGGGCTCAGTGGCCGGGTCCCTGAGCTCCCTAGAGTCG c.2280
Q I Y G Y E G R G S V A G S L S S L E S p.760
. . . . . . g.179363
GCCACCACAGATTCAGACTTGGACTATGATTATCTACAGAACTGGGGACCTCGTTTTAAG c.2340
A T T D S D L D Y D Y L Q N W G P R F K p.780
. . . . . g.179414
AAACTAGCAGATTTGTATGGTTCCAAAGACACTTTTGATGACGATTCTTAA c.2391
K L A D L Y G S K D T F D D D S X p.796
. . . . . . g.179474
caataacgatacaaatttggccttaagaactgtgtctggcgttctcaagaatctagaaga c.*60
. . . . . . g.179534
tgtgtaaacaggtatttttttaaatcaaggaaaggctcatttaaaacaggcaaagtttta c.*120
. . . . . . g.179594
cagagaggatacatttaataaaactgcgaggacatcaaagtggtaaatactgtgaaatac c.*180
. . . . . . g.179654
cttttctcacaaaaaggcaaatattgaagttgtttatcaacttcgctagaaaaaaaaaac c.*240
. . . . . . g.179714
acttggcatacaaaatatttaagtgaaggagaagtctaacgctgaactgacaatgaaggg c.*300
. . . . . . g.179774
aaattgtttatgtgttatgaacatccaagtctttcttcttttttaagttgtcaaagaagc c.*360
. . . . . . g.179834
ttccacaaaattagaaaggacaacagttctgagctgtaatttcgccttaaactctggaca c.*420
. . . . . . g.179894
ctctatatgtagtgcatttttaaacttgaaatatataatattcagccagcttaaacccat c.*480
. . . . . . g.179954
acaatgtatgtacaatacaatgtacaattatgtctcttgagcatcaatcttgttactgct c.*540
. . . . . . g.180014
gattcttgtaaatctttttgcttctactttcatcttaaactaatacgtgccagatataac c.*600
. . . . . . g.180074
tgtcttgtttcagtgagagacgccctatttctatgtcatttttaatgtatctatttgtac c.*660
. . . . . . g.180134
aattttaaagttcttattttagtatacgtataaatatcagtattctgacatgtaagaaaa c.*720
. . . . . . g.180194
tgttacggcatcacacttatattttatgaacattgtactgttgctttaatatgagcttca c.*780
. . . . g.180237
atataagaagcaatctttgaaataaaaaaagatttttttttaa c.*823
(downstream sequence)
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