Canonical Allele Identifier: CA542849008

Gene: GNAT1

Linked Data

• dbSNP Id: rs1559746056
• gnomAD v2: 3-50230606-GAAGT-G
• gnomAD v4: 3-50193173-GAAGT-G
• MyVariant Identifiers: chr3:g.50230607_50230610del (hg19) ; chr3:g.50193174_50193177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193174_50193177del , CM000665.2:g.50193174_50193177del	GRCh38
NC_000003.11:g.50230607_50230610del , CM000665.1:g.50230607_50230610del	GRCh37
NC_000003.10:g.50205611_50205614del	NCBI36
NG_009831.1:g.6565_6568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.148_149+2del
ENST00000232461.7:c.148_149+2del
ENST00000433068.5:c.148_149+2del
ENST00000440836.1:c.4_5+2del
NM_000172.3:c.148_149+2del
NM_144499.2:c.148_149+2del
XM_011533595.1:c.4_5+2del
XM_011533596.1:c.4_5+2del
XR_940416.1:n.428_429+2del
NM_000172.4:c.148_149+2del
NM_144499.3:c.148_149+2del