Canonical Allele Identifier: CA16616733

Gene: DSG2

Linked Data

• gnomAD v4: 18-31522160-GTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522162_31522163del , CM000680.2:g.31522162_31522163del	GRCh38
NC_000018.9:g.29102125_29102126del , CM000680.1:g.29102125_29102126del	GRCh37
NC_000018.8:g.27356123_27356124del	NCBI36
NG_007072.3:g.28921_28922del , LRG_397:g.28921_28922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.434_435del
ENST00000682241.2:c.603_604del	ENSP00000507600.2:p.Leu203GlyfsTer12
ENST00000683614.2:n.434_435del
ENST00000682087.1:c.434_435del
ENST00000682241.1:c.434_435del
ENST00000683614.1:c.434_435del
ENST00000683654.1:c.603_604del	ENSP00000506971.1:p.Leu203GlyfsTer12
ENST00000684461.1:n.1273_1274del
ENST00000261590.13:c.603_604del MANE Select	ENSP00000261590.8:p.Leu203GlyfsTer12
ENST00000261590.12:c.603_604del	ENSP00000261590.8:p.Leu203GlyfsTer12
ENST00000585206.1:c.603_604del	ENSP00000462503.1:p.Leu203GlyfsTer12
NM_001943.3:c.603_604del , LRG_397t1:c.603_604del	NP_001934.2:p.Leu203GlyfsTer12
NM_001943.4:c.603_604del	NP_001934.2:p.Leu203GlyfsTer12
XM_024451095.1:c.69_70del	XP_024306863.1:p.Leu25GlyfsTer12
NM_001943.5:c.603_604del MANE Select	NP_001934.2:p.Leu203GlyfsTer12