Canonical Allele Identifier: CA2745088309

Gene: SLC16A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112917589_112917590del , CM000663.2:g.112917589_112917590del	GRCh38
NC_000001.10:g.113460211_113460212del , CM000663.1:g.113460211_113460212del	GRCh37
NC_000001.9:g.113261734_113261735del	NCBI36
NG_015880.2:g.43339_43340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369626.8:c.816_817del MANE Select	ENSP00000358640.4:p.Met273ValfsTer12
ENST00000429288.2:c.816_817del	ENSP00000397106.2:p.Met273ValfsTer12
ENST00000443580.6:c.816_817del	ENSP00000399104.2:p.Met273ValfsTer12
ENST00000458229.6:c.816_817del	ENSP00000416167.2:p.Met273ValfsTer12
ENST00000679803.1:c.816_817del	ENSP00000505879.1:p.Met273ValfsTer12
ENST00000679846.1:n.1733_1734del
ENST00000369626.7:c.816_817del	ENSP00000358640.3:p.Met273ValfsTer12
ENST00000443580.5:c.816_817del	ENSP00000399104.1:p.Met273ValfsTer12
ENST00000458229.5:c.816_817del	ENSP00000416167.1:p.Met273ValfsTer12
ENST00000538576.5:c.816_817del	ENSP00000441065.1:p.Met273ValfsTer12
NM_001166496.1:c.816_817del	NP_001159968.1:p.Met273ValfsTer12
NM_003051.3:c.816_817del	NP_003042.3:p.Met273ValfsTer12
XM_011542026.1:c.816_817del	XP_011540328.1:p.Met273ValfsTer12
XM_011542027.1:c.816_817del	XP_011540329.1:p.Met273ValfsTer12
NM_003051.4:c.816_817del MANE Select	NP_003042.3:p.Met273ValfsTer12
NM_001166496.2:c.816_817del	NP_001159968.1:p.Met273ValfsTer12