Canonical Allele Identifier: CA2504103734

Gene: SLC16A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112913930_112913931del , CM000663.2:g.112913930_112913931del	GRCh38
NC_000001.10:g.113456552_113456553del , CM000663.1:g.113456552_113456553del	GRCh37
NC_000001.9:g.113258075_113258076del	NCBI36
NG_015880.2:g.47001_47002del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369626.8:c.1466_1467del MANE Select	ENSP00000358640.4:p.Thr489ArgfsTer17
ENST00000429288.2:c.1466_1467del	ENSP00000397106.2:p.Thr489ArgfsTer17
ENST00000443580.6:c.1466_1467del	ENSP00000399104.2:p.Thr489ArgfsTer17
ENST00000458229.6:c.1466_1467del	ENSP00000416167.2:p.Thr489ArgfsTer17
ENST00000679803.1:c.1466_1467del	ENSP00000505879.1:p.Thr489ArgfsTer17
ENST00000369626.7:c.1466_1467del	ENSP00000358640.3:p.Thr489ArgfsTer17
ENST00000538576.5:c.1466_1467del	ENSP00000441065.1:p.Thr489ArgfsTer17
NM_001166496.1:c.1466_1467del	NP_001159968.1:p.Thr489ArgfsTer17
NM_003051.3:c.1466_1467del	NP_003042.3:p.Thr489ArgfsTer17
XM_011542026.1:c.1466_1467del	XP_011540328.1:p.Thr489ArgfsTer17
XM_011542027.1:c.1466_1467del	XP_011540329.1:p.Thr489ArgfsTer17
NM_003051.4:c.1466_1467del MANE Select	NP_003042.3:p.Thr489ArgfsTer17
NM_001166496.2:c.1466_1467del	NP_001159968.1:p.Thr489ArgfsTer17