Canonical Allele Identifier: CA2687151531

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43192228-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192230_43192232del , CM000670.2:g.43192230_43192232del	GRCh38
NC_000008.10:g.43047373_43047375del , CM000670.1:g.43047373_43047375del	GRCh37
NC_000008.9:g.43166530_43166532del	NCBI36
NG_009552.1:g.56782_56784del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1251-74_1251-72del MANE Select	ENSP00000368965.4:n.1251-74_1251-72del
ENST00000379644.8:c.1251-74_1251-72del	ENSP00000368965.4:n.1251-74_1251-72del
ENST00000520678.1:n.184-74_184-72del
ENST00000521576.1:c.402-74_402-72del	ENSP00000429029.1:n.402-74_402-72del
ENST00000524016.5:c.355-74_355-72del
NM_152419.2:c.1251-74_1251-72del	NP_689632.2:n.1251-74_1251-72del
XM_005273409.1:c.1251-74_1251-72del	XP_005273466.1:n.1251-74_1251-72del
XM_005273410.1:c.1251-74_1251-72del	XP_005273467.1:n.1251-74_1251-72del
XM_005273411.1:c.1059-74_1059-72del	XP_005273468.1:n.1059-74_1059-72del
XM_005273412.2:c.1251-74_1251-72del	XP_005273469.1:n.1251-74_1251-72del
NM_001363227.1:c.1251-74_1251-72del	NP_001350156.1:n.1251-74_1251-72del
NM_001363228.1:c.1059-74_1059-72del	NP_001350157.1:n.1059-74_1059-72del
NM_001363229.1:c.387-74_387-72del	NP_001350158.1:n.387-74_387-72del
XM_005273412.4:c.1251-74_1251-72del	XP_005273469.1:n.1251-74_1251-72del
NM_152419.3:c.1251-74_1251-72del MANE Select	NP_689632.2:n.1251-74_1251-72del
NM_001363227.2:c.1251-74_1251-72del	NP_001350156.1:n.1251-74_1251-72del
NM_001363228.2:c.1059-74_1059-72del	NP_001350157.1:n.1059-74_1059-72del
NM_001363229.2:c.387-74_387-72del	NP_001350158.1:n.387-74_387-72del