Canonical Allele Identifier: CA2293859862
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531305_31531306delinsAT , CM000680.2:g.31531305_31531306delinsAT GRCh38
NC_000018.9:g.29111268_29111269delinsAT , CM000680.1:g.29111268_29111269delinsAT GRCh37
NC_000018.8:g.27365266_27365267delinsAT NCBI36
NG_007072.3:g.38064_38065delinsAT , LRG_397:g.38064_38065delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000683614.2:n.1164_1165delinsAT
ENST00000683614.1:c.1164_1165delinsAT
ENST00000261590.13:c.1280+53_1280+54delinsAT MANE Select ENSP00000261590.8:n.1280+53_1280+54delinsAT
ENST00000261590.12:c.1280+53_1280+54delinsAT ENSP00000261590.8:n.1280+53_1280+54delinsAT
NM_001943.3:c.1280+53_1280+54delinsAT , LRG_397t1:c.1280+53_1280+54delinsAT NP_001934.2:n.1280+53_1280+54delinsAT
NM_001943.4:c.1280+53_1280+54delinsAT NP_001934.2:n.1280+53_1280+54delinsAT
XM_024451095.1:c.746+53_746+54delinsAT XP_024306863.1:n.746+53_746+54delinsAT
NM_001943.5:c.1280+53_1280+54delinsAT MANE Select NP_001934.2:n.1280+53_1280+54delinsAT