Canonical Allele Identifier: CA1189548224
Gene: SLC16A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.112913703_112913716delinsCATTCCCTCCTCAA , CM000663.2:g.112913703_112913716delinsCATTCCCTCCTCAA GRCh38
NC_000001.10:g.113456325_113456338delinsCATTCCCTCCTCAA , CM000663.1:g.113456325_113456338delinsCATTCCCTCCTCAA GRCh37
NC_000001.9:g.113257848_113257861delinsCATTCCCTCCTCAA NCBI36
NG_015880.2:g.47213_47226delinsTTGAGGAGGGAATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000369626.8:c.*175_*188delinsTTGAGGAGGGAATG MANE Select ENSP00000358640.4:n.*175_*188delinsTTGAGGAGGGAATG
ENST00000429288.2:c.*175_*188delinsTTGAGGAGGGAATG ENSP00000397106.2:n.*175_*188delinsTTGAGGAGGGAATG
ENST00000443580.6:c.*175_*188delinsTTGAGGAGGGAATG ENSP00000399104.2:n.*175_*188delinsTTGAGGAGGGAATG
ENST00000458229.6:c.*175_*188delinsTTGAGGAGGGAATG ENSP00000416167.2:n.*175_*188delinsTTGAGGAGGGAATG
ENST00000679803.1:c.*175_*188delinsTTGAGGAGGGAATG ENSP00000505879.1:n.*175_*188delinsTTGAGGAGGGAATG
ENST00000369626.7:c.*175_*188delinsTTGAGGAGGGAATG ENSP00000358640.3:n.*175_*188delinsTTGAGGAGGGAATG
ENST00000538576.5:c.*175_*188delinsTTGAGGAGGGAATG ENSP00000441065.1:n.*175_*188delinsTTGAGGAGGGAATG
NM_001166496.1:c.*175_*188delinsTTGAGGAGGGAATG NP_001159968.1:n.*175_*188delinsTTGAGGAGGGAATG
NM_003051.3:c.*175_*188delinsTTGAGGAGGGAATG NP_003042.3:n.*175_*188delinsTTGAGGAGGGAATG
XM_011542026.1:c.*175_*188delinsTTGAGGAGGGAATG XP_011540328.1:n.*175_*188delinsTTGAGGAGGGAATG
XM_011542027.1:c.*175_*188delinsTTGAGGAGGGAATG XP_011540329.1:n.*175_*188delinsTTGAGGAGGGAATG
NM_003051.4:c.*175_*188delinsTTGAGGAGGGAATG MANE Select NP_003042.3:n.*175_*188delinsTTGAGGAGGGAATG
NM_001166496.2:c.*175_*188delinsTTGAGGAGGGAATG NP_001159968.1:n.*175_*188delinsTTGAGGAGGGAATG