Canonical Allele Identifier: CA2580078506

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 1725204
• ClinVar RCV Id: RCV002308263

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192411_43192414del , CM000670.2:g.43192411_43192414del	GRCh38
NC_000008.10:g.43047554_43047557del , CM000670.1:g.43047554_43047557del	GRCh37
NC_000008.9:g.43166711_43166714del	NCBI36
NG_009552.1:g.56963_56966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1358_1361del MANE Select	ENSP00000368965.4:p.Tyr453CysfsTer28
ENST00000379644.8:c.1358_1361del	ENSP00000368965.4:p.Tyr453CysfsTer28
ENST00000520678.1:n.291_294del
ENST00000521576.1:c.509_512del	ENSP00000429029.1:p.Tyr170CysfsTer28
ENST00000524016.5:c.462_465del
NM_152419.2:c.1358_1361del	NP_689632.2:p.Tyr453CysfsTer28
XM_005273409.1:c.1358_1361del	XP_005273466.1:p.Tyr453CysfsTer28
XM_005273410.1:c.1358_1361del	XP_005273467.1:p.Tyr453CysfsTer28
XM_005273411.1:c.1166_1169del	XP_005273468.1:p.Tyr389CysfsTer28
XM_005273412.2:c.1358_1361del	XP_005273469.1:p.Tyr453CysfsTer28
NM_001363227.1:c.1358_1361del	NP_001350156.1:p.Tyr453CysfsTer28
NM_001363228.1:c.1166_1169del	NP_001350157.1:p.Tyr389CysfsTer28
NM_001363229.1:c.494_497del	NP_001350158.1:p.Tyr165CysfsTer28
XM_005273412.4:c.1358_1361del	XP_005273469.1:p.Tyr453CysfsTer28
NM_152419.3:c.1358_1361del MANE Select	NP_689632.2:p.Tyr453CysfsTer28
NM_001363227.2:c.1358_1361del	NP_001350156.1:p.Tyr453CysfsTer28
NM_001363228.2:c.1166_1169del	NP_001350157.1:p.Tyr389CysfsTer28
NM_001363229.2:c.494_497del	NP_001350158.1:p.Tyr165CysfsTer28