Canonical Allele Identifier: CA2665815223

Gene: GNAT1

Linked Data

• gnomAD v4: 3-50193359-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193360del , CM000665.2:g.50193360del	GRCh38
NC_000003.11:g.50230793del , CM000665.1:g.50230793del	GRCh37
NC_000003.10:g.50205797del	NCBI36
NG_009831.1:g.6751del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.245del MANE Select	ENSP00000232461.3:p.Arg82ProfsTer3
ENST00000232461.7:c.245del	ENSP00000232461.3:p.Arg82ProfsTer3
ENST00000433068.5:c.245del	ENSP00000387555.1:p.Arg82ProfsTer3
ENST00000440836.1:c.101del	ENSP00000403537.1:p.Arg34ProfsTer3
NM_000172.3:c.245del	NP_000163.2:p.Arg82ProfsTer3
NM_144499.2:c.245del	NP_653082.1:p.Arg82ProfsTer3
XM_011533595.1:c.101del	XP_011531897.1:p.Arg34ProfsTer3
XM_011533596.1:c.101del	XP_011531898.1:p.Arg34ProfsTer3
XR_940416.1:n.525del
NM_000172.4:c.245del	NP_000163.2:p.Arg82ProfsTer3
NM_144499.3:c.245del MANE Select	NP_653082.1:p.Arg82ProfsTer3