Canonical Allele Identifier: CA2740095032

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 2953989
• ClinVar RCV Id: RCV003813212

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193780del , CM000670.2:g.43193780del	GRCh38
NC_000008.10:g.43048923del , CM000670.1:g.43048923del	GRCh37
NC_000008.9:g.43168080del	NCBI36
NG_009552.1:g.58332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1401del MANE Select	ENSP00000368965.4:p.Tyr468MetfsTer14
ENST00000379644.8:c.1401del	ENSP00000368965.4:p.Tyr468MetfsTer14
ENST00000520678.1:n.334del
ENST00000521576.1:c.552del	ENSP00000429029.1:p.Tyr185MetfsTer14
ENST00000524016.5:c.505del
NM_152419.2:c.1401del	NP_689632.2:p.Tyr468MetfsTer14
XM_005273409.1:c.1401del	XP_005273466.1:p.Tyr468MetfsTer14
XM_005273410.1:c.1401del	XP_005273467.1:p.Tyr468MetfsTer14
XM_005273411.1:c.1209del	XP_005273468.1:p.Tyr404MetfsTer14
XM_005273412.2:c.1401del	XP_005273469.1:p.Tyr468MetfsTer14
NM_001363227.1:c.1401del	NP_001350156.1:p.Tyr468MetfsTer14
NM_001363228.1:c.1209del	NP_001350157.1:p.Tyr404MetfsTer14
NM_001363229.1:c.537del	NP_001350158.1:p.Tyr180MetfsTer14
XM_005273412.4:c.1401del	XP_005273469.1:p.Tyr468MetfsTer14
NM_152419.3:c.1401del MANE Select	NP_689632.2:p.Tyr468MetfsTer14
NM_001363227.2:c.1401del	NP_001350156.1:p.Tyr468MetfsTer14
NM_001363228.2:c.1209del	NP_001350157.1:p.Tyr404MetfsTer14
NM_001363229.2:c.537del	NP_001350158.1:p.Tyr180MetfsTer14