Canonical Allele Identifier: CA2756206778
Gene: GNAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193401_50193402insAGT , CM000665.2:g.50193401_50193402insAGT GRCh38
NC_000003.11:g.50230834_50230835insAGT , CM000665.1:g.50230834_50230835insAGT GRCh37
NC_000003.10:g.50205838_50205839insAGT NCBI36
NG_009831.1:g.6792_6793insAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.286_287insAGT MANE Select ENSP00000232461.3:p.Arg96delinsGlnCys
ENST00000232461.7:c.286_287insAGT ENSP00000232461.3:p.Arg96delinsGlnCys
ENST00000433068.5:c.286_287insAGT ENSP00000387555.1:p.Arg96delinsGlnCys
ENST00000440836.1:c.142_143insAGT ENSP00000403537.1:p.Arg48delinsGlnCys
NM_000172.3:c.286_287insAGT NP_000163.2:p.Arg96delinsGlnCys
NM_144499.2:c.286_287insAGT NP_653082.1:p.Arg96delinsGlnCys
XM_011533595.1:c.142_143insAGT XP_011531897.1:p.Arg48delinsGlnCys
XM_011533596.1:c.142_143insAGT XP_011531898.1:p.Arg48delinsGlnCys
XR_940416.1:n.566_567insAGT
NM_000172.4:c.286_287insAGT NP_000163.2:p.Arg96delinsGlnCys
NM_144499.3:c.286_287insAGT MANE Select NP_653082.1:p.Arg96delinsGlnCys