Canonical Allele Identifier: CA1779760608

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 2421969
• ClinVar RCV Id: RCV003116271
• dbSNP Id: rs1804623023
• gnomAD v4: 8-43193850-GTTCAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193857_43193861del , CM000670.2:g.43193857_43193861del	GRCh38
NC_000008.10:g.43049000_43049004del , CM000670.1:g.43049000_43049004del	GRCh37
NC_000008.9:g.43168157_43168161del	NCBI36
NG_009552.1:g.58409_58413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1464+14_1464+18del MANE Select	ENSP00000368965.4:n.1464+14_1464+18del
ENST00000379644.8:c.1464+14_1464+18del	ENSP00000368965.4:n.1464+14_1464+18del
ENST00000520678.1:n.411_415del
ENST00000521576.1:c.615+14_615+18del	ENSP00000429029.1:n.615+14_615+18del
ENST00000524016.5:c.568+14_568+18del
NM_152419.2:c.1464+14_1464+18del	NP_689632.2:n.1464+14_1464+18del
XM_005273409.1:c.1464+14_1464+18del	XP_005273466.1:n.1464+14_1464+18del
XM_005273410.1:c.1464+14_1464+18del	XP_005273467.1:n.1464+14_1464+18del
XM_005273411.1:c.1272+14_1272+18del	XP_005273468.1:n.1272+14_1272+18del
XM_005273412.2:c.1464+14_1464+18del	XP_005273469.1:n.1464+14_1464+18del
NM_001363227.1:c.1464+14_1464+18del	NP_001350156.1:n.1464+14_1464+18del
NM_001363228.1:c.1272+14_1272+18del	NP_001350157.1:n.1272+14_1272+18del
NM_001363229.1:c.600+14_600+18del	NP_001350158.1:n.600+14_600+18del
XM_005273412.4:c.1464+14_1464+18del	XP_005273469.1:n.1464+14_1464+18del
NM_152419.3:c.1464+14_1464+18del MANE Select	NP_689632.2:n.1464+14_1464+18del
NM_001363227.2:c.1464+14_1464+18del	NP_001350156.1:n.1464+14_1464+18del
NM_001363228.2:c.1272+14_1272+18del	NP_001350157.1:n.1272+14_1272+18del
NM_001363229.2:c.600+14_600+18del	NP_001350158.1:n.600+14_600+18del