Canonical Allele Identifier: CA1363836780
Gene: GNAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193396_50193397delinsCT , CM000665.2:g.50193396_50193397delinsCT GRCh38
NC_000003.11:g.50230829_50230830delinsCT , CM000665.1:g.50230829_50230830delinsCT GRCh37
NC_000003.10:g.50205833_50205834delinsCT NCBI36
NG_009831.1:g.6787_6788delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.281_282delinsCT MANE Select ENSP00000232461.3:p.Ser94=
ENST00000232461.7:c.281_282delinsCT ENSP00000232461.3:p.Ser94=
ENST00000433068.5:c.281_282delinsCT ENSP00000387555.1:p.Ser94=
ENST00000440836.1:c.137_138delinsCT ENSP00000403537.1:p.Ser46=
NM_000172.3:c.281_282delinsCT NP_000163.2:p.Ser94=
NM_144499.2:c.281_282delinsCT NP_653082.1:p.Ser94=
XM_011533595.1:c.137_138delinsCT XP_011531897.1:p.Ser46=
XM_011533596.1:c.137_138delinsCT XP_011531898.1:p.Ser46=
XR_940416.1:n.561_562delinsCT
NM_000172.4:c.281_282delinsCT NP_000163.2:p.Ser94=
NM_144499.3:c.281_282delinsCT MANE Select NP_653082.1:p.Ser94=