Canonical Allele Identifier: CA1779777474

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1804842925

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199378_43199381del , CM000670.2:g.43199378_43199381del	GRCh38
NC_000008.10:g.43054521_43054524del , CM000670.1:g.43054521_43054524del	GRCh37
NC_000008.9:g.43173678_43173681del	NCBI36
NG_009552.1:g.63930_63933del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1727-10_1727-7del MANE Select	ENSP00000368965.4:n.1727-10_1727-7del
ENST00000379644.8:c.1727-10_1727-7del	ENSP00000368965.4:n.1727-10_1727-7del
ENST00000519705.1:n.1043-10_1043-7del
ENST00000521576.1:c.878-10_878-7del	ENSP00000429029.1:n.878-10_878-7del
NM_152419.2:c.1727-10_1727-7del	NP_689632.2:n.1727-10_1727-7del
XM_005273409.1:c.1838-10_1838-7del	XP_005273466.1:n.1838-10_1838-7del
XM_005273410.1:c.1814-10_1814-7del	XP_005273467.1:n.1814-10_1814-7del
XM_005273411.1:c.1646-10_1646-7del	XP_005273468.1:n.1646-10_1646-7del
NM_001363227.1:c.1814-10_1814-7del	NP_001350156.1:n.1814-10_1814-7del
NM_001363228.1:c.1535-10_1535-7del	NP_001350157.1:n.1535-10_1535-7del
NM_001363229.1:c.863-10_863-7del	NP_001350158.1:n.863-10_863-7del
NM_152419.3:c.1727-10_1727-7del MANE Select	NP_689632.2:n.1727-10_1727-7del
NM_001363227.2:c.1814-10_1814-7del	NP_001350156.1:n.1814-10_1814-7del
NM_001363228.2:c.1535-10_1535-7del	NP_001350157.1:n.1535-10_1535-7del
NM_001363229.2:c.863-10_863-7del	NP_001350158.1:n.863-10_863-7del