(used for variant description)
(last modified March 2, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001257.4 in the CDH13 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_052819.1, covering CDH13 transcript NM_001257.4.
(upstream sequence)
. . . . . g.5059
aacagtccaaagaagcaaatgggatgccacctccgcggggctcgctcctcgcgaggtgc c.-241
. . . . . . g.5119
tcaccccgtatctgccatgcaaaacgagggagcgttaggaaggaatccgtcttgtaaagc c.-181
. . . . . . g.5179
cattggtcctggtcatcagcctctacccaatgctttcgtgatgctgctgctgatctattt c.-121
. . . . . . g.5239
gggaagttggctggctggcgaggcagagcctctcctcaaagcctggctcccacggaaaat c.-61
. . . . . . g.5299
atgctcagtgcagccgcgtgcatgaatgaaaacgccgccgggcgcttctagtcggacaaa c.-1
. . . . | 02 . . g.236583
ATGCAGCCGAGAACTCCGCTCGTTCTGTGCGTTCTCCTGTCCCAG | GTGCTGCTGCTAACA c.60
M Q P R T P L V L C V L L S Q | V L L L T p.20
. . . . . . g.236643
TCTGCAGAAGATTTGGACTGCACTCCTGGATTTCAGCAGAAAGTGTTCCATATCAATCAG c.120
S A E D L D C T P G F Q Q K V F H I N Q p.40
. . . | 03. . . g.410239
CCAGCTGAATTCATTGAGGACCAGTCAATTCTAAACT | TGACCTTCAGTGACTGTAAGGGA c.180
P A E F I E D Q S I L N L | T F S D C K G p.60
. . . . . . g.410299
AACGACAAGCTACGCTATGAGGTCTCGAGCCCATACTTCAAGGTGAACAGCGATGGCGGC c.240
N D K L R Y E V S S P Y F K V N S D G G p.80
. . . . . . g.410359
TTAGTTGCTCTGAGAAACATAACTGCAGTGGGCAAAACTCTGTTCGTCCATGCACGGACC c.300
L V A L R N I T A V G K T L F V H A R T p.100
. . . . . . g.410419
CCCCATGCGGAAGATATGGCAGAACTCGTGATTGTCGGGGGGAAAGACATCCAGGGCTCC c.360
P H A E D M A E L V I V G G K D I Q G S p.120
| 04 . . . . . . g.503645
TTGCAG | GATATATTTAAATTTGCAAGAACTTCTCCTGTCCCAAGACAAAAGAGGTCCATT c.420
L Q | D I F K F A R T S P V P R Q K R S I p.140
. . . . . . g.503705
GTGGTATCTCCCATTTTAATTCCAGAGAATCAGAGACAGCCTTTCCCAAGAGATGTTGGC c.480
V V S P I L I P E N Q R Q P F P R D V G p.160
| 05 . . . . . . g.595608
AAG | GTAGTCGATAGTGACAGGCCAGAAAGGTCCAAGTTCCGGCTCACTGGAAAGGGAGTG c.540
K | V V D S D R P E R S K F R L T G K G V p.180
. . . . . . g.595668
GATCAAGAGCCTAAAGGAATTTTCAGAATCAATGAGAACACAGGGAGCGTCTCCGTGACA c.600
D Q E P K G I F R I N E N T G S V S V T p.200
. . . | 06 . . . g.723092
CGGACCTTGGACAGAGAAGTAATCGCTGTTTATCAA | CTATTTGTGGAGACCACTGATGTC c.660
R T L D R E V I A V Y Q | L F V E T T D V p.220
. . . . . . g.723152
AATGGCAAAACTCTCGAGGGGCCGGTGCCTCTGGAAGTCATTGTGATTGATCAGAATGAC c.720
N G K T L E G P V P L E V I V I D Q N D p.240
. . . . . . g.723212
AACCGACCGATCTTTCGGGAAGGCCCCTACATCGGCCACGTCATGGAAGGGTCACCCACA c.780
N R P I F R E G P Y I G H V M E G S P T p.260
| 07 . . . . . . g.864742
G | GCACCACAGTGATGCGGATGACAGCCTTTGATGCAGATGACCCAGCCACCGATAATGCC c.840
G | T T V M R M T A F D A D D P A T D N A p.280
. . . . . . g.864802
CTCCTGCGGTATAATATCCGTCAGCAGACGCCTGACAAGCCATCTCCCAACATGTTCTAC c.900
L L R Y N I R Q Q T P D K P S P N M F Y p.300
. . . . . . g.864862
ATCGATCCTGAGAAAGGAGACATTGTCACTGTTGTGTCACCTGCGCTGCTGGACCGAGAG c.960
I D P E K G D I V T V V S P A L L D R E p.320
| 08 . . . . . . g.980720
| ACTCTGGAAAATCCCAAGTATGAACTGATCATCGAGGCTCAAGATATGGCTGGACTGGAT c.1020
| T L E N P K Y E L I I E A Q D M A G L D p.340
. . . . . . g.980780
GTTGGATTAACAGGCACGGCCACAGCCACGATCATGATCGATGACAAAAATGATCACTCA c.1080
V G L T G T A T A T I M I D D K N D H S p.360
. . | 09 . . . . g.1049035
CCAAAATTCACCAAGAAAGAG | TTTCAAGCCACAGTCGAGGAAGGAGCTGTGGGAGTTATT c.1140
P K F T K K E | F Q A T V E E G A V G V I p.380
. . . . . . g.1049095
GTCAATTTGACAGTTGAAGATAAGGATGACCCCACCACAGGTGCATGGAGGGCTGCCTAC c.1200
V N L T V E D K D D P T T G A W R A A Y p.400
. . . . . . g.1049155
ACCATCATCAACGGAAACCCCGGGCAGAGCTTTGAAATCCACACCAACCCTCAAACCAAC c.1260
T I I N G N P G Q S F E I H T N P Q T N p.420
. . | 10 . . . . g.1056450
GAAGGGATGCTTTCTGTTGTCAAA | CCATTGGACTATGAAATTTCTGCCTTCCACACCCTG c.1320
E G M L S V V K | P L D Y E I S A F H T L p.440
. . . . . . g.1056510
CTGATCAAAGTGGAAAATGAAGACCCACTCGTACCCGACGTCTCCTACGGCCCCAGCTCC c.1380
L I K V E N E D P L V P D V S Y G P S S p.460
. . . . . . g.1056570
ACAGCCACCGTCCACATCACTGTCCTGGATGTCAACGAGGGCCCAGTCTTCTACCCAGAC c.1440
T A T V H I T V L D V N E G P V F Y P D p.480
. . . . . . g.1056630
CCCATGATGGTGACCAGGCAGGAGGACCTCTCTGTGGGCAGCGTGCTGCTGACAGTGAAT c.1500
P M M V T R Q E D L S V G S V L L T V N p.500
. . . | 11 . . g.1126336
GCCACGGACCCCGACTCCCTGCAGCATCAAACCATCAG | GTATTCTGTTTACAAGGACCCA c.1560
A T D P D S L Q H Q T I R | Y S V Y K D P p.520
. . . . . . g.1126396
GCAGGTTGGCTGAATATTAACCCCATCAATGGGACTGTTGACACCACAGCTGTGCTGGAC c.1620
A G W L N I N P I N G T V D T T A V L D p.540
. . . . . . g.1126456
CGTGAGTCCCCATTTGTCGACAACAGCGTGTACACTGCTCTCTTCCTGGCAATTGACAGT c.1680
R E S P F V D N S V Y T A L F L A I D S p.560
| 12 . . . . . . g.1158233
G | GCAACCCTCCCGCTACGGGCACTGGGACTTTGCTGATAACCCTGGAGGACGTGAATGAC c.1740
G | N P P A T G T G T L L I T L E D V N D p.580
. . . . . . g.1158293
AATGCCCCGTTCATTTACCCCACAGTAGCTGAAGTCTGTGATGATGCCAAAAACCTCAGT c.1800
N A P F I Y P T V A E V C D D A K N L S p.600
. . . . . . g.1158353
GTAGTCATTTTGGGAGCATCAGATAAGGATCTTCACCCGAATACAGATCCTTTCAAATTT c.1860
V V I L G A S D K D L H P N T D P F K F p.620
. . . . . | 13 . g.1161465
GAAATCCACAAACAAGCTGTTCCTGATAAAGTCTGGAAGATCTCCAAGATCAACA | ATACA c.1920
E I H K Q A V P D K V W K I S K I N N | T p.640
. . . . . . g.1161525
CACGCCCTGGTAAGCCTTCTTCAAAATCTGAACAAAGCAAACTACAACCTGCCCATCATG c.1980
H A L V S L L Q N L N K A N Y N L P I M p.660
. . . . . . g.1161585
GTGACAGATTCAGGGAAACCACCCATGACGAATATCACAGATCTCAGGGTACAAGTGTGC c.2040
V T D S G K P P M T N I T D L R V Q V C p.680
. . . . . . g.1161645
TCCTGCAGGAATTCCAAAGTGGACTGCAACGCGGCAGGGGCCCTGCGCTTCAGCCTGCCC c.2100
S C R N S K V D C N A A G A L R F S L P p.700
. . . | 14 . g.1173255
TCAGTCCTGCTCCTCAGCCTCTTCAGCTTAGCTT | GTCTGTGA c.2142
S V L L L S L F S L A C | L X p.713
. . . . . . g.1173315
gaactcctgacgtctgaagcttgactcccaagtttccatagcaacaggaaaaaaaaaaat c.*60
. . . . . . g.1173375
ctatccaaatctgaagattgcggtttacagctatcgaacttcacaactaggcctcaattg c.*120
. . . . . . g.1173435
ttccggttttttattttctttacaatttcacttagtctgtacttcatcattttgacagca c.*180
. . . . . . g.1173495
tcttcctccctcctttaattaatggaatcttctgaattttccctgaatgtttaaagatca c.*240
. . . . . . g.1173555
tgacatatgacttgatcttctgggagcaggaacaatgactactttttctggtgtgttaac c.*300
. . . . . . g.1173615
atgtcgctagccagtgctccaggcacccagctttgtctgtgggttagtattggtgtatgt c.*360
. . . . . . g.1173675
atgagtatctgtatgtatatatacacggtatttatagagagagactatcctggagaagcc c.*420
. . . . . . g.1173735
tcgttttgatgccattcttccttgcaaggttaagcaaggtgggtggaaactaagacacct c.*480
. . . . . . g.1173795
gaaccctccagggcctcccgcatcaaggtcagcatgaggacagaccacagagctgtcact c.*540
. . . . . . g.1173855
tttgctccgaagctacttctccactgtcccgttcagtctgaatgctgccacaaccagcca c.*600
. . . . . . g.1173915
ggcaggtccacagagagggagagcagagaaagaagtcctttctctttattgagttcgagg c.*660
. . . . . . g.1173975
actacaaccaatttacactgccatctgatgccgtgatcctgagccaaggaggtgaggagc c.*720
. . . . . . g.1174035
agagcaggcaatttcaccaccaaatgccaagaaaagggctgacattttctttcatgggca c.*780
. . . . . . g.1174095
ccaacctgcatttgtatgtgtcccgaatccacagtcgtactgattctaatggggacacag c.*840
. . . . . . g.1174155
atcatggtagagaatctctccctcctcagtaaatgtacaactgcacctgtcatcatggag c.*900
. . . . . . g.1174215
gtcatacatgcatacaaagaggtgtacaggtaccatcttgtatacacatatatacccaca c.*960
. . . . . . g.1174275
tgtacagacatacatttatgcacattcacgctgtttgtttcatatatacaggcataaaat c.*1020
. . . . . . g.1174335
agagtaaatacaggtagttttaaaagtacccttttgtgtgaattgactaccgttgtttgc c.*1080
. . . . . . g.1174395
aaacccgaaaataaaagacgttcattatgtatgaaaagtaactgatttgtattctgtgag c.*1140
. . . . . . g.1174455
catgtaaaagcggaaagttagtgcttgttctaagattaccttcttgttgataaaccataa c.*1200
. . . . . . g.1174515
atgaatcatcaaagctcacaccaaatttttctatcaaataaaactagtgacagcttgtgg c.*1260
. . . . . . g.1174575
ctttttattagagctcgccacgaactagggtaaggtgagtgtcttagcatattttaatgc c.*1320
. . . . . . g.1174635
agttgcttactaaaggttttaaccgcacatgcacacacacacgctttcttatgcaatcta c.*1380
. . . . . . g.1174695
tgtttgcacttgtgctttcagttagccttctgtaggaagtagaagtcatatgttgtcttt c.*1440
. . . . . . g.1174755
gttgtagtgaaattatacagatagagttccatatattgtatttgtttcaatggtaaatcc c.*1500
. . . . . . g.1174815
ttttggaacatatagaatgcagagatttttttttccattaaaataaatgggtattggtgg c.*1560
. . g.1174835
ttaaaactgctggacagtaa c.*1580
(downstream sequence)
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