Canonical Allele Identifier: CA2687154313

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43197625-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197628_43197629del , CM000670.2:g.43197628_43197629del	GRCh38
NC_000008.10:g.43052771_43052772del , CM000670.1:g.43052771_43052772del	GRCh37
NC_000008.9:g.43171928_43171929del	NCBI36
NG_009552.1:g.62180_62181del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1543-44_1543-43del MANE Select	ENSP00000368965.4:n.1543-44_1543-43del
ENST00000379644.8:c.1543-44_1543-43del	ENSP00000368965.4:n.1543-44_1543-43del
ENST00000519705.1:n.859-44_859-43del
ENST00000521576.1:c.694-44_694-43del	ENSP00000429029.1:n.694-44_694-43del
ENST00000523989.1:n.1812_1813del
NM_152419.2:c.1543-44_1543-43del	NP_689632.2:n.1543-44_1543-43del
XM_005273409.1:c.1654-44_1654-43del	XP_005273466.1:n.1654-44_1654-43del
XM_005273410.1:c.1630-44_1630-43del	XP_005273467.1:n.1630-44_1630-43del
XM_005273411.1:c.1462-44_1462-43del	XP_005273468.1:n.1462-44_1462-43del
NM_001363227.1:c.1630-44_1630-43del	NP_001350156.1:n.1630-44_1630-43del
NM_001363228.1:c.1351-44_1351-43del	NP_001350157.1:n.1351-44_1351-43del
NM_001363229.1:c.679-44_679-43del	NP_001350158.1:n.679-44_679-43del
NM_152419.3:c.1543-44_1543-43del MANE Select	NP_689632.2:n.1543-44_1543-43del
NM_001363227.2:c.1630-44_1630-43del	NP_001350156.1:n.1630-44_1630-43del
NM_001363228.2:c.1351-44_1351-43del	NP_001350157.1:n.1351-44_1351-43del
NM_001363229.2:c.679-44_679-43del	NP_001350158.1:n.679-44_679-43del