Canonical Allele Identifier: CA2697554465

Gene: SLC16A1

Linked Data

• ClinVar Variation Id: 2691470
• ClinVar RCV Id: RCV003493342

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112917686_112917687del , CM000663.2:g.112917686_112917687del	GRCh38
NC_000001.10:g.113460308_113460309del , CM000663.1:g.113460308_113460309del	GRCh37
NC_000001.9:g.113261831_113261832del	NCBI36
NG_015880.2:g.43242_43243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369626.8:c.719_720del MANE Select	ENSP00000358640.4:p.Gln240ArgfsTer10
ENST00000429288.2:c.719_720del	ENSP00000397106.2:p.Gln240ArgfsTer10
ENST00000443580.6:c.719_720del	ENSP00000399104.2:p.Gln240ArgfsTer10
ENST00000458229.6:c.719_720del	ENSP00000416167.2:p.Gln240ArgfsTer10
ENST00000679803.1:c.719_720del	ENSP00000505879.1:p.Gln240ArgfsTer10
ENST00000679846.1:n.1636_1637del
ENST00000369626.7:c.719_720del	ENSP00000358640.3:p.Gln240ArgfsTer10
ENST00000443580.5:c.719_720del	ENSP00000399104.1:p.Gln240ArgfsTer10
ENST00000458229.5:c.719_720del	ENSP00000416167.1:p.Gln240ArgfsTer10
ENST00000538576.5:c.719_720del	ENSP00000441065.1:p.Gln240ArgfsTer10
NM_001166496.1:c.719_720del	NP_001159968.1:p.Gln240ArgfsTer10
NM_003051.3:c.719_720del	NP_003042.3:p.Gln240ArgfsTer10
XM_011542026.1:c.719_720del	XP_011540328.1:p.Gln240ArgfsTer10
XM_011542027.1:c.719_720del	XP_011540329.1:p.Gln240ArgfsTer10
NM_003051.4:c.719_720del MANE Select	NP_003042.3:p.Gln240ArgfsTer10
NM_001166496.2:c.719_720del	NP_001159968.1:p.Gln240ArgfsTer10