Canonical Allele Identifier: CA2756206779
Gene: GNAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193404_50193405insCAAACACACCCAACAC , CM000665.2:g.50193404_50193405insCAAACACACCCAACAC GRCh38
NC_000003.11:g.50230837_50230838insCAAACACACCCAACAC , CM000665.1:g.50230837_50230838insCAAACACACCCAACAC GRCh37
NC_000003.10:g.50205841_50205842insCAAACACACCCAACAC NCBI36
NG_009831.1:g.6795_6796insCAAACACACCCAACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.289_290insCAAACACACCCAACAC MANE Select ENSP00000232461.3:p.Gln97ProfsTer?
ENST00000232461.7:c.289_290insCAAACACACCCAACAC ENSP00000232461.3:p.Gln97ProfsTer?
ENST00000433068.5:c.289_290insCAAACACACCCAACAC ENSP00000387555.1:p.Gln97ProfsTer?
ENST00000440836.1:c.145_146insCAAACACACCCAACAC ENSP00000403537.1:p.Gln49ProfsTer?
NM_000172.3:c.289_290insCAAACACACCCAACAC NP_000163.2:p.Gln97ProfsTer?
NM_144499.2:c.289_290insCAAACACACCCAACAC NP_653082.1:p.Gln97ProfsTer?
XM_011533595.1:c.145_146insCAAACACACCCAACAC XP_011531897.1:p.Gln49ProfsTer?
XM_011533596.1:c.145_146insCAAACACACCCAACAC XP_011531898.1:p.Gln49ProfsTer?
XR_940416.1:n.569_570insCAAACACACCCAACAC
NM_000172.4:c.289_290insCAAACACACCCAACAC NP_000163.2:p.Gln97ProfsTer?
NM_144499.3:c.289_290insCAAACACACCCAACAC MANE Select NP_653082.1:p.Gln97ProfsTer?