Canonical Allele Identifier: CA176069344

Gene: HGSNAT

Linked Data

• dbSNP Id: rs747744084
• gnomAD v2: 8-43037240-AGAG-A
• gnomAD v3: 8-43182097-AGAG-A
• gnomAD v4: 8-43182097-AGAG-A
• MyVariant Identifiers: chr8:g.43037241_43037243del (hg19) ; chr8:g.43182098_43182100del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43182101_43182103del , CM000670.2:g.43182101_43182103del	GRCh38
NC_000008.10:g.43037244_43037246del , CM000670.1:g.43037244_43037246del	GRCh37
NC_000008.9:g.43156401_43156403del	NCBI36
NG_009552.1:g.46653_46655del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1013-44_1013-42del MANE Select	ENSP00000368965.4:n.1013-44_1013-42del
ENST00000379644.8:c.1013-44_1013-42del	ENSP00000368965.4:n.1013-44_1013-42del
ENST00000519000.1:n.455_457del
ENST00000521576.1:c.164-44_164-42del	ENSP00000429029.1:n.164-44_164-42del
ENST00000522082.5:c.254-44_254-42del	ENSP00000430151.1:n.254-44_254-42del
ENST00000524016.5:c.117-44_117-42del
NM_152419.2:c.1013-44_1013-42del	NP_689632.2:n.1013-44_1013-42del
XM_005273409.1:c.1013-44_1013-42del	XP_005273466.1:n.1013-44_1013-42del
XM_005273410.1:c.1013-44_1013-42del	XP_005273467.1:n.1013-44_1013-42del
XM_005273411.1:c.821-44_821-42del	XP_005273468.1:n.821-44_821-42del
XM_005273412.2:c.1013-44_1013-42del	XP_005273469.1:n.1013-44_1013-42del
NM_001363227.1:c.1013-44_1013-42del	NP_001350156.1:n.1013-44_1013-42del
NM_001363228.1:c.821-44_821-42del	NP_001350157.1:n.821-44_821-42del
NM_001363229.1:c.149-44_149-42del	NP_001350158.1:n.149-44_149-42del
XM_005273412.4:c.1013-44_1013-42del	XP_005273469.1:n.1013-44_1013-42del
NM_152419.3:c.1013-44_1013-42del MANE Select	NP_689632.2:n.1013-44_1013-42del
NM_001363227.2:c.1013-44_1013-42del	NP_001350156.1:n.1013-44_1013-42del
NM_001363228.2:c.821-44_821-42del	NP_001350157.1:n.821-44_821-42del
NM_001363229.2:c.149-44_149-42del	NP_001350158.1:n.149-44_149-42del