Canonical Allele Identifier: CA2580078321

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 2081403
• ClinVar RCV Id: RCV002994260

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199410_43199411delinsCA , CM000670.2:g.43199410_43199411delinsCA	GRCh38
NC_000008.10:g.43054553_43054554delinsCA , CM000670.1:g.43054553_43054554delinsCA	GRCh37
NC_000008.9:g.43173710_43173711delinsCA	NCBI36
NG_009552.1:g.63962_63963delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1749_1750delinsCA MANE Select	ENSP00000368965.4:p.Val584Ile
ENST00000379644.8:c.1749_1750delinsCA	ENSP00000368965.4:p.Val584Ile
ENST00000519705.1:n.1065_1066delinsCA
ENST00000521576.1:c.900_901delinsCA	ENSP00000429029.1:p.Val301Ile
NM_152419.2:c.1749_1750delinsCA	NP_689632.2:p.Val584Ile
XM_005273409.1:c.1860_1861delinsCA	XP_005273466.1:p.Val621Ile
XM_005273410.1:c.1836_1837delinsCA	XP_005273467.1:p.Val613Ile
XM_005273411.1:c.1668_1669delinsCA	XP_005273468.1:p.Val557Ile
NM_001363227.1:c.1836_1837delinsCA	NP_001350156.1:p.Val613Ile
NM_001363228.1:c.1557_1558delinsCA	NP_001350157.1:p.Val520Ile
NM_001363229.1:c.885_886delinsCA	NP_001350158.1:p.Val296Ile
NM_152419.3:c.1749_1750delinsCA MANE Select	NP_689632.2:p.Val584Ile
NM_001363227.2:c.1836_1837delinsCA	NP_001350156.1:p.Val613Ile
NM_001363228.2:c.1557_1558delinsCA	NP_001350157.1:p.Val520Ile
NM_001363229.2:c.885_886delinsCA	NP_001350158.1:p.Val296Ile