Canonical Allele Identifier: CA2293856901

Gene: DSG2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524762_31524768delinsCGATGCA , CM000680.2:g.31524762_31524768delinsCGATGCA	GRCh38
NC_000018.9:g.29104725_29104731delinsCGATGCA , CM000680.1:g.29104725_29104731delinsCGATGCA	GRCh37
NC_000018.8:g.27358723_27358729delinsCGATGCA	NCBI36
NG_007072.3:g.31521_31527delinsCGATGCA , LRG_397:g.31521_31527delinsCGATGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.719_725delinsCGATGCA
ENST00000683614.2:n.719_725delinsCGATGCA
ENST00000682087.1:c.719_725delinsCGATGCA
ENST00000683614.1:c.719_725delinsCGATGCA
ENST00000261590.13:c.888_894delinsCGATGCA MANE Select	ENSP00000261590.8:p.Phe296=
ENST00000261590.12:c.888_894delinsCGATGCA	ENSP00000261590.8:p.Phe296=
NM_001943.3:c.888_894delinsCGATGCA , LRG_397t1:c.888_894delinsCGATGCA	NP_001934.2:p.Phe296=
NM_001943.4:c.888_894delinsCGATGCA	NP_001934.2:p.Phe296=
XM_024451095.1:c.354_360delinsCGATGCA	XP_024306863.1:p.Phe118=
NM_001943.5:c.888_894delinsCGATGCA MANE Select	NP_001934.2:p.Phe296=