Canonical Allele Identifier: CA2579647048
Gene: SLC16A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421875_74421878del , CM000685.2:g.74421875_74421878del GRCh38
NC_000023.10:g.73641710_73641713del , CM000685.1:g.73641710_73641713del GRCh37
NC_000023.9:g.73558435_73558438del NCBI36
NG_011641.1:g.5626_5629del
NG_011641.2:g.5626_5629del

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.238_241del MANE Select ENSP00000465734.1:p.Thr80LeufsTer3
ENST00000587091.5:c.238_241del ENSP00000465734.1:p.Thr80LeufsTer3
NM_006517.4:c.238_241del NP_006508.2:p.Thr80LeufsTer3
XM_005262294.1:c.238_241del XP_005262351.1:p.Thr80LeufsTer3
XM_011531015.1:c.238_241del XP_011529317.1:p.Thr80LeufsTer3
NM_006517.5:c.238_241del MANE Select NP_006508.2:p.Thr80LeufsTer3