Canonical Allele Identifier: CA851970692

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1203139906
• MyVariant Identifiers: chr8:g.43048906_43048910del (hg19) ; chr8:g.43193763_43193767del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193763_43193767del , CM000670.2:g.43193763_43193767del	GRCh38
NC_000008.10:g.43048906_43048910del , CM000670.1:g.43048906_43048910del	GRCh37
NC_000008.9:g.43168063_43168067del	NCBI36
NG_009552.1:g.58315_58319del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1384_1388del MANE Select	ENSP00000368965.4:p.Tyr462HisfsTer6
ENST00000379644.8:c.1384_1388del	ENSP00000368965.4:p.Tyr462HisfsTer6
ENST00000520678.1:n.317_321del
ENST00000521576.1:c.535_539del	ENSP00000429029.1:p.Tyr179HisfsTer6
ENST00000524016.5:c.488_492del
NM_152419.2:c.1384_1388del	NP_689632.2:p.Tyr462HisfsTer6
XM_005273409.1:c.1384_1388del	XP_005273466.1:p.Tyr462HisfsTer6
XM_005273410.1:c.1384_1388del	XP_005273467.1:p.Tyr462HisfsTer6
XM_005273411.1:c.1192_1196del	XP_005273468.1:p.Tyr398HisfsTer6
XM_005273412.2:c.1384_1388del	XP_005273469.1:p.Tyr462HisfsTer6
NM_001363227.1:c.1384_1388del	NP_001350156.1:p.Tyr462HisfsTer6
NM_001363228.1:c.1192_1196del	NP_001350157.1:p.Tyr398HisfsTer6
NM_001363229.1:c.520_524del	NP_001350158.1:p.Tyr174HisfsTer6
XM_005273412.4:c.1384_1388del	XP_005273469.1:p.Tyr462HisfsTer6
NM_152419.3:c.1384_1388del MANE Select	NP_689632.2:p.Tyr462HisfsTer6
NM_001363227.2:c.1384_1388del	NP_001350156.1:p.Tyr462HisfsTer6
NM_001363228.2:c.1192_1196del	NP_001350157.1:p.Tyr398HisfsTer6
NM_001363229.2:c.520_524del	NP_001350158.1:p.Tyr174HisfsTer6