Canonical Allele Identifier: CA2745088331
Gene: SLC16A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.112917717_112917718insG , CM000663.2:g.112917717_112917718insG GRCh38
NC_000001.10:g.113460339_113460340insG , CM000663.1:g.113460339_113460340insG GRCh37
NC_000001.9:g.113261862_113261863insG NCBI36
NG_015880.2:g.43211_43212insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000369626.8:c.688_689insC MANE Select ENSP00000358640.4:p.Asn230ThrfsTer10
ENST00000429288.2:c.688_689insC ENSP00000397106.2:p.Asn230ThrfsTer10
ENST00000443580.6:c.688_689insC ENSP00000399104.2:p.Asn230ThrfsTer10
ENST00000458229.6:c.688_689insC ENSP00000416167.2:p.Asn230ThrfsTer10
ENST00000679803.1:c.688_689insC ENSP00000505879.1:p.Asn230ThrfsTer10
ENST00000679846.1:n.1605_1606insC
ENST00000369626.7:c.688_689insC ENSP00000358640.3:p.Asn230ThrfsTer10
ENST00000443580.5:c.688_689insC ENSP00000399104.1:p.Asn230ThrfsTer10
ENST00000458229.5:c.688_689insC ENSP00000416167.1:p.Asn230ThrfsTer10
ENST00000538576.5:c.688_689insC ENSP00000441065.1:p.Asn230ThrfsTer10
NM_001166496.1:c.688_689insC NP_001159968.1:p.Asn230ThrfsTer10
NM_003051.3:c.688_689insC NP_003042.3:p.Asn230ThrfsTer10
XM_011542026.1:c.688_689insC XP_011540328.1:p.Asn230ThrfsTer10
XM_011542027.1:c.688_689insC XP_011540329.1:p.Asn230ThrfsTer10
NM_003051.4:c.688_689insC MANE Select NP_003042.3:p.Asn230ThrfsTer10
NM_001166496.2:c.688_689insC NP_001159968.1:p.Asn230ThrfsTer10