Canonical Allele Identifier: CA543052623

Gene: GNAT1

Linked Data

• dbSNP Id: rs1237120911
• gnomAD v2: 3-50230843-TGC-T
• gnomAD v4: 3-50193410-TGC-T
• MyVariant Identifiers: chr3:g.50230844_50230845del (hg19) ; chr3:g.50193411_50193412del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193411_50193412del , CM000665.2:g.50193411_50193412del	GRCh38
NC_000003.11:g.50230844_50230845del , CM000665.1:g.50230844_50230845del	GRCh37
NC_000003.10:g.50205848_50205849del	NCBI36
NG_009831.1:g.6802_6803del

Transcript Alleles

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