Canonical Allele Identifier: CA16615376
Community Standard Title: NM_004360.5(CDH1):c.1008+2T>C
Gene: CDH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68811861T>C , CM000678.2:g.68811861T>C GRCh38
NC_000016.9:g.68845764T>C , CM000678.1:g.68845764T>C GRCh37
NC_000016.8:g.67403265T>C NCBI36
NG_008021.1:g.79570T>C , LRG_301:g.79570T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004360.5:c.1008+2T>C MANE Select NP_004351.1:n.1008+2T>C
ENST00000261769.10:c.1008+2T>C MANE Select ENSP00000261769.4:n.1008+2T>C
NM_001317184.1:c.1008+2T>C NP_001304113.1:n.1008+2T>C
NM_001317184.2:c.1008+2T>C NP_001304113.1:n.1008+2T>C
NM_001317185.1:c.-608+2T>C NP_001304114.1:n.-608+2T>C
NM_001317185.2:c.-608+2T>C NP_001304114.1:n.-608+2T>C
NM_001317186.1:c.-812+2T>C NP_001304115.1:n.-812+2T>C
NM_001317186.2:c.-812+2T>C NP_001304115.1:n.-812+2T>C
NM_004360.3:c.1008+2T>C , LRG_301t1:c.1008+2T>C NP_004351.1:n.1008+2T>C
NM_004360.4:c.1008+2T>C NP_004351.1:n.1008+2T>C
ENST00000261769.9:c.1008+2T>C ENSP00000261769.4:n.1008+2T>C
ENST00000422392.6:c.1008+2T>C ENSP00000414946.2:n.1008+2T>C
ENST00000561751.1:c.630+2T>C
ENST00000562836.5:n.1079+2T>C
ENST00000566510.5:c.852+2T>C ENSP00000458139.1:n.852+2T>C
ENST00000566612.5:c.1008+2T>C ENSP00000454782.1:n.1008+2T>C
ENST00000611625.4:c.1008+2T>C ENSP00000481063.1:n.1008+2T>C
ENST00000612417.4:c.1008+2T>C ENSP00000478360.1:n.1008+2T>C
ENST00000621016.4:c.1008+2T>C ENSP00000480664.1:n.1008+2T>C
XM_011523488.1:c.273+2T>C XP_011521790.1:n.273+2T>C
XM_011523489.1:c.273+2T>C XP_011521791.1:n.273+2T>C
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