Canonical Allele Identifier: CA2756206782
Gene: GNAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193412_50193413insAGA , CM000665.2:g.50193412_50193413insAGA GRCh38
NC_000003.11:g.50230845_50230846insAGA , CM000665.1:g.50230845_50230846insAGA GRCh37
NC_000003.10:g.50205849_50205850insAGA NCBI36
NG_009831.1:g.6803_6804insAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.291+6_291+7insAGA MANE Select ENSP00000232461.3:n.291+6_291+7insAGA
ENST00000232461.7:c.291+6_291+7insAGA ENSP00000232461.3:n.291+6_291+7insAGA
ENST00000433068.5:c.291+6_291+7insAGA ENSP00000387555.1:n.291+6_291+7insAGA
ENST00000440836.1:c.147+6_147+7insAGA ENSP00000403537.1:n.147+6_147+7insAGA
NM_000172.3:c.291+6_291+7insAGA NP_000163.2:n.291+6_291+7insAGA
NM_144499.2:c.291+6_291+7insAGA NP_653082.1:n.291+6_291+7insAGA
XM_011533595.1:c.147+6_147+7insAGA XP_011531897.1:n.147+6_147+7insAGA
XM_011533596.1:c.147+6_147+7insAGA XP_011531898.1:n.147+6_147+7insAGA
XR_940416.1:n.571+6_571+7insAGA
NM_000172.4:c.291+6_291+7insAGA NP_000163.2:n.291+6_291+7insAGA
NM_144499.3:c.291+6_291+7insAGA MANE Select NP_653082.1:n.291+6_291+7insAGA