Canonical Allele Identifier: CA2687154280

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43197593-A-AAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197600_43197601dup , CM000670.2:g.43197600_43197601dup	GRCh38
NC_000008.10:g.43052743_43052744dup , CM000670.1:g.43052743_43052744dup	GRCh37
NC_000008.9:g.43171900_43171901dup	NCBI36
NG_009552.1:g.62152_62153dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1543-72_1543-71dup MANE Select	ENSP00000368965.4:n.1543-72_1543-71dup
ENST00000379644.8:c.1543-72_1543-71dup	ENSP00000368965.4:n.1543-72_1543-71dup
ENST00000519705.1:n.859-72_859-71dup
ENST00000521576.1:c.694-72_694-71dup	ENSP00000429029.1:n.694-72_694-71dup
ENST00000523989.1:n.1784_1785dup
NM_152419.2:c.1543-72_1543-71dup	NP_689632.2:n.1543-72_1543-71dup
XM_005273409.1:c.1654-72_1654-71dup	XP_005273466.1:n.1654-72_1654-71dup
XM_005273410.1:c.1630-72_1630-71dup	XP_005273467.1:n.1630-72_1630-71dup
XM_005273411.1:c.1462-72_1462-71dup	XP_005273468.1:n.1462-72_1462-71dup
NM_001363227.1:c.1630-72_1630-71dup	NP_001350156.1:n.1630-72_1630-71dup
NM_001363228.1:c.1351-72_1351-71dup	NP_001350157.1:n.1351-72_1351-71dup
NM_001363229.1:c.679-72_679-71dup	NP_001350158.1:n.679-72_679-71dup
NM_152419.3:c.1543-72_1543-71dup MANE Select	NP_689632.2:n.1543-72_1543-71dup
NM_001363227.2:c.1630-72_1630-71dup	NP_001350156.1:n.1630-72_1630-71dup
NM_001363228.2:c.1351-72_1351-71dup	NP_001350157.1:n.1351-72_1351-71dup
NM_001363229.2:c.679-72_679-71dup	NP_001350158.1:n.679-72_679-71dup