Canonical Allele Identifier: CA2844774534
Gene: SLC16A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.112917433_112917436del , CM000663.2:g.112917433_112917436del GRCh38
NC_000001.10:g.113460055_113460058del , CM000663.1:g.113460055_113460058del GRCh37
NC_000001.9:g.113261578_113261581del NCBI36
NG_015880.2:g.43493_43496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369626.8:c.970_973del MANE Select ENSP00000358640.4:p.Pro324Ter
ENST00000429288.2:c.970_973del ENSP00000397106.2:p.Pro324Ter
ENST00000443580.6:c.970_973del ENSP00000399104.2:p.Pro324Ter
ENST00000458229.6:c.970_973del ENSP00000416167.2:p.Pro324Ter
ENST00000679803.1:c.970_973del ENSP00000505879.1:p.Pro324Ter
ENST00000679846.1:n.1887_1890del
ENST00000369626.7:c.970_973del ENSP00000358640.3:p.Pro324Ter
ENST00000458229.5:c.970_973del ENSP00000416167.1:p.Pro324Ter
ENST00000538576.5:c.970_973del ENSP00000441065.1:p.Pro324Ter
NM_001166496.1:c.970_973del NP_001159968.1:p.Pro324Ter
NM_003051.3:c.970_973del NP_003042.3:p.Pro324Ter
XM_011542026.1:c.970_973del XP_011540328.1:p.Pro324Ter
XM_011542027.1:c.970_973del XP_011540329.1:p.Pro324Ter
NM_003051.4:c.970_973del MANE Select NP_003042.3:p.Pro324Ter
NM_001166496.2:c.970_973del NP_001159968.1:p.Pro324Ter