Canonical Allele Identifier: CA1779774280

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1804140811
• gnomAD v4: 8-43181982-GCCCATGTCTCTTGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43181985_43181998del , CM000670.2:g.43181985_43181998del	GRCh38
NC_000008.10:g.43037128_43037141del , CM000670.1:g.43037128_43037141del	GRCh37
NC_000008.9:g.43156285_43156298del	NCBI36
NG_009552.1:g.46537_46550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1013-160_1013-147del MANE Select	ENSP00000368965.4:n.1013-160_1013-147del
ENST00000379644.8:c.1013-160_1013-147del	ENSP00000368965.4:n.1013-160_1013-147del
ENST00000519000.1:n.339_352del
ENST00000521576.1:c.164-160_164-147del	ENSP00000429029.1:n.164-160_164-147del
ENST00000522082.5:c.254-160_254-147del	ENSP00000430151.1:n.254-160_254-147del
ENST00000524016.5:c.117-160_117-147del
NM_152419.2:c.1013-160_1013-147del	NP_689632.2:n.1013-160_1013-147del
XM_005273409.1:c.1013-160_1013-147del	XP_005273466.1:n.1013-160_1013-147del
XM_005273410.1:c.1013-160_1013-147del	XP_005273467.1:n.1013-160_1013-147del
XM_005273411.1:c.821-160_821-147del	XP_005273468.1:n.821-160_821-147del
XM_005273412.2:c.1013-160_1013-147del	XP_005273469.1:n.1013-160_1013-147del
NM_001363227.1:c.1013-160_1013-147del	NP_001350156.1:n.1013-160_1013-147del
NM_001363228.1:c.821-160_821-147del	NP_001350157.1:n.821-160_821-147del
NM_001363229.1:c.149-160_149-147del	NP_001350158.1:n.149-160_149-147del
XM_005273412.4:c.1013-160_1013-147del	XP_005273469.1:n.1013-160_1013-147del
NM_152419.3:c.1013-160_1013-147del MANE Select	NP_689632.2:n.1013-160_1013-147del
NM_001363227.2:c.1013-160_1013-147del	NP_001350156.1:n.1013-160_1013-147del
NM_001363228.2:c.821-160_821-147del	NP_001350157.1:n.821-160_821-147del
NM_001363229.2:c.149-160_149-147del	NP_001350158.1:n.149-160_149-147del