Canonical Allele Identifier: CA851967239

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 633267
• ClinVar RCV Id: RCV000781468
• dbSNP Id: rs1466847827
• gnomAD v3: 8-43140449-A-AGGGCG
• gnomAD v4: 8-43140449-A-AGGGCG
• MyVariant Identifiers: chr8:g.42995592_42995593insGGGCG (hg19) ; chr8:g.43140449_43140450insGGGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43140455_43140459dup , CM000670.2:g.43140455_43140459dup	GRCh38
NC_000008.10:g.42995598_42995602dup , CM000670.1:g.42995598_42995602dup	GRCh37
NC_000008.9:g.43114755_43114759dup	NCBI36
NG_009552.1:g.5007_5011dup

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.2:c.-42_-38dup	NP_689632.2:n.-42_-38dup
XM_005273409.1:c.-42_-38dup	XP_005273466.1:n.-42_-38dup
XM_005273410.1:c.-42_-38dup	XP_005273467.1:n.-42_-38dup
XM_005273411.1:c.-42_-38dup	XP_005273468.1:n.-42_-38dup
XM_005273412.2:c.-42_-38dup	XP_005273469.1:n.-42_-38dup
XM_005273412.4:c.-42_-38dup	XP_005273469.1:n.-42_-38dup