Canonical Allele Identifier: CA1363836779
Gene: GNAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193393_50193395delinsACT , CM000665.2:g.50193393_50193395delinsACT GRCh38
NC_000003.11:g.50230826_50230828delinsACT , CM000665.1:g.50230826_50230828delinsACT GRCh37
NC_000003.10:g.50205830_50205832delinsACT NCBI36
NG_009831.1:g.6784_6786delinsACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.278_280delinsACT MANE Select ENSP00000232461.3:p.Asp93=
ENST00000232461.7:c.278_280delinsACT ENSP00000232461.3:p.Asp93=
ENST00000433068.5:c.278_280delinsACT ENSP00000387555.1:p.Asp93=
ENST00000440836.1:c.134_136delinsACT ENSP00000403537.1:p.Asp45=
NM_000172.3:c.278_280delinsACT NP_000163.2:p.Asp93=
NM_144499.2:c.278_280delinsACT NP_653082.1:p.Asp93=
XM_011533595.1:c.134_136delinsACT XP_011531897.1:p.Asp45=
XM_011533596.1:c.134_136delinsACT XP_011531898.1:p.Asp45=
XR_940416.1:n.558_560delinsACT
NM_000172.4:c.278_280delinsACT NP_000163.2:p.Asp93=
NM_144499.3:c.278_280delinsACT MANE Select NP_653082.1:p.Asp93=