Canonical Allele Identifier: CA2641406396

Gene: DSG2

Linked Data

• gnomAD v4: 18-31531301-GCCTATTTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31531302_31531310del , CM000680.2:g.31531302_31531310del	GRCh38
NC_000018.9:g.29111265_29111273del , CM000680.1:g.29111265_29111273del	GRCh37
NC_000018.8:g.27365263_27365271del	NCBI36
NG_007072.3:g.38061_38069del , LRG_397:g.38061_38069del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683614.2:n.1161_1169del
ENST00000683614.1:c.1161_1169del
ENST00000261590.13:c.1280+50_1280+58del MANE Select	ENSP00000261590.8:n.1280+50_1280+58del
ENST00000261590.12:c.1280+50_1280+58del	ENSP00000261590.8:n.1280+50_1280+58del
NM_001943.3:c.1280+50_1280+58del , LRG_397t1:c.1280+50_1280+58del	NP_001934.2:n.1280+50_1280+58del
NM_001943.4:c.1280+50_1280+58del	NP_001934.2:n.1280+50_1280+58del
XM_024451095.1:c.746+50_746+58del	XP_024306863.1:n.746+50_746+58del
NM_001943.5:c.1280+50_1280+58del MANE Select	NP_001934.2:n.1280+50_1280+58del