Canonical Allele Identifier: CA2573137206

Gene: GNAT1

Linked Data

• ClinVar Variation Id: 1671180
• ClinVar RCV Id: RCV002196551
• dbSNP Id: rs2109138589

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193420del , CM000665.2:g.50193420del	GRCh38
NC_000003.11:g.50230853del , CM000665.1:g.50230853del	GRCh37
NC_000003.10:g.50205857del	NCBI36
NG_009831.1:g.6811del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.291+14del MANE Select	ENSP00000232461.3:n.291+14del
ENST00000232461.7:c.291+14del	ENSP00000232461.3:n.291+14del
ENST00000433068.5:c.291+14del	ENSP00000387555.1:n.291+14del
ENST00000440836.1:c.147+14del	ENSP00000403537.1:n.147+14del
NM_000172.3:c.291+14del	NP_000163.2:n.291+14del
NM_144499.2:c.291+14del	NP_653082.1:n.291+14del
XM_011533595.1:c.147+14del	XP_011531897.1:n.147+14del
XM_011533596.1:c.147+14del	XP_011531898.1:n.147+14del
XR_940416.1:n.571+14del
NM_000172.4:c.291+14del	NP_000163.2:n.291+14del
NM_144499.3:c.291+14del MANE Select	NP_653082.1:n.291+14del