(used for variant description)
(last modified November 13, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001793.4 in the CDH3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009096.1, covering CDH3 transcript NM_001793.4.
(upstream sequence)
. . . . . g.5052
tgcgttttaaaaattgtctttatttacattttacagaaagttgagaaagtgt c.-1081
. . . . . . g.5112
tatttatatggggggtaggggtgctggagattatgagactaataacaaccctcttagctc c.-1021
. . . . . . g.5172
gcaccctttggcaccactacagcttccaaactctgggactttctcgactagcttcccttt c.-961
. . . . . . g.5232
gtttagctgtgaaatggaagaagcggtccgggtgtggcggctcatgcctgtaacctgagc c.-901
. . . . . . g.5292
actctgggaggcggaggatcgcttgagtccagaagttcaagaccagcttgggcaacatag c.-841
. . . . . . g.5352
ggtgaccctccaccctccccccgccccaccacatcgctacaaaaaatttttaaaaattag c.-781
. . . . . . g.5412
ccgggtgtggtggcgcaagcctgtagtctcagcgggagctgagggaggagaatcgcttca c.-721
. . . . . . g.5472
gcccgggaggtcgaggctgtagtgagccgagatcgcgctactgcactcctgggcgacaga c.-661
. . . . . . g.5532
gcgagaccctgtctccaaaaaaaaaaaaaaaagaaaaaagaggaagttgtatccaattca c.-601
. . . . . . g.5592
gaaacgcggtccttcgggacctgctagttttataccccggaggatcctccccggcgggct c.-541
. . . . . . g.5652
ggcacgggaggtggagaaagaggcttgggcggccccgctgtagccgcgtgtgggaggacg c.-481
. . . . . . g.5712
cacgggcctgcttcaaagctttgggataacagcgcctccgggggataatgaatgcggagc c.-421
. . . . . . g.5772
ctccgttttcagtcgacttcagatgtgtctccacttttttccgctgtagccgcaaggcaa c.-361
. . . . . . g.5832
ggaaacatttctcttcccgtactgaggaggctgaggagtgcactgggtgttcttttctcc c.-301
. . . . . . g.5892
tctaacccagaactgcgagacagaggctgagtccctgtaaagaacagctccagaaaagcc c.-241
. . . . . . g.5952
aggagagcgcaggagggcatccgggaggccaggaggggttcgctggggcctcaaccgcac c.-181
. . . . . . g.6012
ccacatcggtcccacctgcgagggggcgggacctcgtggcgctggaccaatcagcaccca c.-121
. . . . . . g.6072
cctgcgctcacctggcctcctcccgctggctcccgggggctgcggtgctcaaaggggcaa c.-61
. . . . . . g.6132
gagctgagcggaacaccggcccgccgtcgcggcagctgcttcacccctctctctgcagcc c.-1
. . . . | 02 . . g.6403
ATGGGGCTCCCTCGTGGACCTCTCGCGTCTCTCCTCCTTCTCCAG | GTTTGCTGGCTGCAG c.60
M G L P R G P L A S L L L L Q | V C W L Q p.20
. . . . . . g.6463
TGCGCGGCCTCCGAGCCGTGCCGGGCGGTCTTCAGGGAGGCTGAAGTGACCTTGGAGGCG c.120
C A A S E P C R A V F R E A E V T L E A p.40
. . . . | 03 . . g.37157
GGAGGCGCGGAGCAGGAGCCCGGCCAGGCGCTGGGGAAAG | TATTCATGGGCTGCCCTGGG c.180
G G A E Q E P G Q A L G K V | F M G C P G p.60
. . . . . . g.37217
CAAGAGCCAGCTCTGTTTAGCACTGATAATGATGACTTCACTGTGCGGAATGGCGAGACA c.240
Q E P A L F S T D N D D F T V R N G E T p.80
| 04 . . . . . . g.38940
GTCCAG | GAAAGAAGGTCACTGAAGGAAAGGAATCCATTGAAGATCTTCCCATCCAAACGT c.300
V Q | E R R S L K E R N P L K I F P S K R p.100
. . . . . . g.39000
ATCTTACGAAGACACAAGAGAGATTGGGTGGTTGCTCCAATATCTGTCCCTGAAAATGGC c.360
I L R R H K R D W V V A P I S V P E N G p.120
. . . | 05 . . . g.39283
AAGGGTCCCTTCCCCCAGAGACTGAATCAG | CTCAAGTCTAATAAAGATAGAGACACCAAG c.420
K G P F P Q R L N Q | L K S N K D R D T K p.140
. . . . . . g.39343
ATTTTCTACAGCATCACGGGGCCGGGGGCAGACAGCCCCCCTGAGGGTGTCTTCGCTGTA c.480
I F Y S I T G P G A D S P P E G V F A V p.160
. . . . . . g.39403
GAGAAGGAGACAGGCTGGTTGTTGTTGAATAAGCCACTGGACCGGGAGGAGATTGCCAAG c.540
E K E T G W L L L N K P L D R E E I A K p.180
| 06 . . . . . . g.39568
TATGAG | CTCTTTGGCCACGCTGTGTCAGAGAATGGTGCCTCAGTGGAGGACCCCATGAAC c.600
Y E | L F G H A V S E N G A S V E D P M N p.200
. . . . . . g.39628
ATCTCCATCATCGTGACCGACCAGAATGACCACAAGCCCAAGTTTACCCAGGACACCTTC c.660
I S I I V T D Q N D H K P K F T Q D T F p.220
. . . | 07 . . . g.40580
CGAGGGAGTGTCTTAGAGGGAGTCCTACCAG | GTACTTCTGTGATGCAGGTGACAGCCACG c.720
R G S V L E G V L P G | T S V M Q V T A T p.240
. . . . . . g.40640
GATGAGGATGATGCCATCTACACCTACAATGGGGTGGTTGCTTACTCCATCCATAGCCAA c.780
D E D D A I Y T Y N G V V A Y S I H S Q p.260
. . . . . . g.40700
GAACCAAAGGACCCACACGACCTCATGTTCACCATTCACCGGAGCACAGGCACCATCAGC c.840
E P K D P H D L M F T I H R S T G T I S p.280
. . | 08. . . . g.41753
GTCATCTCCAGTGGCCTGGACCGGGAA | AAAGTCCCTGAGTACACACTGACCATCCAGGCC c.900
V I S S G L D R E | K V P E Y T L T I Q A p.300
. . . . . . g.41813
ACAGACATGGATGGGGACGGCTCCACCACCACGGCAGTGGCAGTAGTGGAGATCCTTGAT c.960
T D M D G D G S T T T A V A V V E I L D p.320
. . . | 09 . . . g.43078
GCCAATGACAATGCTCCCATGTTTGACCCCCAGAAG | TACGAGGCCCATGTGCCTGAGAAT c.1020
A N D N A P M F D P Q K | Y E A H V P E N p.340
. . . . . . g.43138
GCAGTGGGCCATGAGGTGCAGAGGCTGACGGTCACTGATCTGGACGCCCCCAACTCACCA c.1080
A V G H E V Q R L T V T D L D A P N S P p.360
. . . . . . g.43198
GCGTGGCGTGCCACCTACCTTATCATGGGCGGTGACGACGGGGACCATTTTACCATCACC c.1140
A W R A T Y L I M G G D D G D H F T I T p.380
. . . . | 10 . . g.45353
ACCCACCCTGAGAGCAACCAGGGCATCCTGACAACCAGGAAG | GGTTTGGATTTTGAGGCC c.1200
T H P E S N Q G I L T T R K | G L D F E A p.400
. . . . . . g.45413
AAAAACCAGCACACCCTGTACGTTGAAGTGACCAACGAGGCCCCTTTTGTGCTGAAGCTC c.1260
K N Q H T L Y V E V T N E A P F V L K L p.420
. . . . . . g.45473
CCAACCTCCACAGCCACCATAGTGGTCCACGTGGAGGATGTGAATGAGGCACCTGTGTTT c.1320
P T S T A T I V V H V E D V N E A P V F p.440
. . . . . . g.45533
GTCCCACCCTCCAAAGTCGTTGAGGTCCAGGAGGGCATCCCCACTGGGGAGCCTGTGTGT c.1380
V P P S K V V E V Q E G I P T G E P V C p.460
. . . . | 11 . . g.45973
GTCTACACTGCAGAAGACCCTGACAAGGAGAATCAAAAGATCAG | CTACCGCATCCTGAGA c.1440
V Y T A E D P D K E N Q K I S | Y R I L R p.480
. . . . . . g.46033
GACCCAGCAGGGTGGCTAGCCATGGACCCAGACAGTGGGCAGGTCACAGCTGTGGGCACC c.1500
D P A G W L A M D P D S G Q V T A V G T p.500
. . . . . . g.46093
CTCGACCGTGAGGATGAGCAGTTTGTGAGGAACAACATCTATGAAGTCATGGTCTTGGCC c.1560
L D R E D E Q F V R N N I Y E V M V L A p.520
. | 12 . . . . . g.48314
ATGGACAATG | GAAGCCCTCCCACCACTGGCACGGGAACCCTTCTGCTAACACTGATTGAT c.1620
M D N G | S P P T T G T G T L L L T L I D p.540
. . . . . . g.48374
GTCAATGACCATGGCCCAGTCCCTGAGCCCCGTCAGATCACCATCTGCAACCAAAGCCCT c.1680
V N D H G P V P E P R Q I T I C N Q S P p.560
. . . . . . g.48434
GTGCGCCAGGTGCTGAACATCACGGACAAGGACCTGTCTCCCCACACCTCCCCTTTCCAG c.1740
V R Q V L N I T D K D L S P H T S P F Q p.580
. . . . . | 13 . g.52477
GCCCAGCTCACAGATGACTCAGACATCTACTGGACGGCAGAGGTCAACGAGGAAG | GTGAC c.1800
A Q L T D D S D I Y W T A E V N E E G | D p.600
. . . . . . g.52537
ACAGTGGTCTTGTCCCTGAAGAAGTTCCTGAAGCAGGATACATATGACGTGCACCTTTCT c.1860
T V V L S L K K F L K Q D T Y D V H L S p.620
. . . . . . g.52597
CTGTCTGACCATGGCAACAAAGAGCAGCTGACGGTGATCAGGGCCACTGTGTGCGACTGC c.1920
L S D H G N K E Q L T V I R A T V C D C p.640
. . . . . . g.52657
CATGGCCATGTCGAAACCTGCCCTGGACCCTGGAAGGGAGGTTTCATCCTCCCTGTGCTG c.1980
H G H V E T C P G P W K G G F I L P V L p.660
. . | 14 . . . . g.56045
GGGGCTGTCCTGGCTCTGCTGT | TCCTCCTGCTGGTGCTGCTTTTGTTGGTGAGAAAGAAG c.2040
G A V L A L L F | L L L V L L L L V R K K p.680
. . . . . . g.56105
CGGAAGATCAAGGAGCCCCTCCTACTCCCAGAAGATGACACCCGTGACAACGTCTTCTAC c.2100
R K I K E P L L L P E D D T R D N V F Y p.700
. . . | 15 . . . g.56556
TATGGCGAAGAGGGGGGTGGCGAAGAGGACCAG | GACTATGACATCACCCAGCTCCACCGA c.2160
Y G E E G G G E E D Q | D Y D I T Q L H R p.720
. . . . . . g.56616
GGTCTGGAGGCCAGGCCGGAGGTGGTTCTCCGCAATGACGTGGCACCAACCATCATCCCG c.2220
G L E A R P E V V L R N D V A P T I I P p.740
. . . . . . g.56676
ACACCCATGTACCGTCCTCGGCCAGCCAACCCAGATGAAATCGGCAACTTTATAATTGAG c.2280
T P M Y R P R P A N P D E I G N F I I E p.760
| 16 . . . . . . g.59003
| AACCTGAAGGCGGCTAACACAGACCCCACAGCCCCGCCCTACGACACCCTCTTGGTGTTC c.2340
| N L K A A N T D P T A P P Y D T L L V F p.780
. . . . . . g.59063
GACTATGAGGGCAGCGGCTCCGACGCCGCGTCCCTGAGCTCCCTCACCTCCTCCGCCTCC c.2400
D Y E G S G S D A A S L S S L T S S A S p.800
. . . . . . g.59123
GACCAAGACCAAGATTACGATTATCTGAACGAGTGGGGCAGCCGCTTCAAGAAGCTGGCA c.2460
D Q D Q D Y D Y L N E W G S R F K K L A p.820
. . . g.59153
GACATGTACGGTGGCGGGGAGGACGACTAG c.2490
D M Y G G G E D D X p.829
. . . . . . g.59213
gcggcctgcctgcagggctggggaccaaacgtcaggccacagagcatctccaaggggtct c.*60
. . . . . . g.59273
cagttcccccttcagctgaggacttcggagcttgtcaggaagtggccgtagcaacttggc c.*120
. . . . . . g.59333
ggagacaggctatgagtctgacgttagagtggtggcttccttagcctttcaggatggagg c.*180
. . . . . . g.59393
aatgtgggcagtttgacttcagcactgaaaacctctccacctgggccagggttgcctcag c.*240
. . . . . . g.59453
aggccaagtttccagaagcctcttacctgccgtaaaatgctcaaccctgtgtcctgggcc c.*300
. . . . . . g.59513
tgggcctgctgtgactgacctacagtggactttctctctggaatggaaccttcttaggcc c.*360
. . . . . . g.59573
tcctggtgcaacttaatttttttttttaatgctatcttcaaaacgttagagaaagttctt c.*420
. . . . . . g.59633
caaaagtgcagcccagagctgctgggcccactggccgtcctgcatttctggtttccagac c.*480
. . . . . . g.59693
cccaatgcctcccattcggatggatctctgcgtttttatactgagtgtgcctaggttgcc c.*540
. . . . . . g.59753
ccttattttttattttccctgttgcgttgctatagatgaagggtgaggacaatcgtgtat c.*600
. . . . . g.59807
atgtactagaacttttttattaaagaaacttttcccagaggtgcctggggagtg c.*654
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 25b
©2004-2020 Leiden University Medical Center