Canonical Allele Identifier: CA543052622

Gene: GNAT1

Linked Data

• ClinVar Variation Id: 2787146
• ClinVar RCV Id: RCV003660592
• dbSNP Id: rs1559746225
• gnomAD v2: 3-50230826-ACT-A
• gnomAD v4: 3-50193393-ACT-A
• MyVariant Identifiers: chr3:g.50230827_50230828del (hg19) ; chr3:g.50193394_50193395del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193396_50193397del , CM000665.2:g.50193396_50193397del	GRCh38
NC_000003.11:g.50230829_50230830del , CM000665.1:g.50230829_50230830del	GRCh37
NC_000003.10:g.50205833_50205834del	NCBI36
NG_009831.1:g.6787_6788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.281_282del MANE Select	ENSP00000232461.3:p.Ser94CysfsTer?
ENST00000232461.7:c.281_282del	ENSP00000232461.3:p.Ser94CysfsTer?
ENST00000433068.5:c.281_282del	ENSP00000387555.1:p.Ser94CysfsTer?
ENST00000440836.1:c.137_138del	ENSP00000403537.1:p.Ser46CysfsTer?
NM_000172.3:c.281_282del	NP_000163.2:p.Ser94CysfsTer?
NM_144499.2:c.281_282del	NP_653082.1:p.Ser94CysfsTer?
XM_011533595.1:c.137_138del	XP_011531897.1:p.Ser46CysfsTer?
XM_011533596.1:c.137_138del	XP_011531898.1:p.Ser46CysfsTer?
XR_940416.1:n.561_562del
NM_000172.4:c.281_282del	NP_000163.2:p.Ser94CysfsTer?
NM_144499.3:c.281_282del MANE Select	NP_653082.1:p.Ser94CysfsTer?