Canonical Allele Identifier: CA581635812

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1394782856
• gnomAD v2: 8-43028440-GTTTTCT-G
• gnomAD v3: 8-43173297-GTTTTCT-G
• gnomAD v4: 8-43173297-GTTTTCT-G
• MyVariant Identifiers: chr8:g.43028441_43028446del (hg19) ; chr8:g.43173298_43173303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43173314_43173319del , CM000670.2:g.43173314_43173319del	GRCh38
NC_000008.10:g.43028457_43028462del , CM000670.1:g.43028457_43028462del	GRCh37
NC_000008.9:g.43147614_43147619del	NCBI36
NG_009552.1:g.37866_37871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.821-399_821-394del MANE Select	ENSP00000368965.4:n.821-399_821-394del
ENST00000379644.8:c.821-399_821-394del	ENSP00000368965.4:n.821-399_821-394del
ENST00000520704.1:c.*270-399_*270-394del	ENSP00000429109.1:n.*270-399_*270-394del
ENST00000522082.5:c.62-399_62-394del	ENSP00000430151.1:n.62-399_62-394del
NM_152419.2:c.821-399_821-394del	NP_689632.2:n.821-399_821-394del
XM_005273409.1:c.821-399_821-394del	XP_005273466.1:n.821-399_821-394del
XM_005273410.1:c.821-399_821-394del	XP_005273467.1:n.821-399_821-394del
XM_005273411.1:c.820+928_820+933del	XP_005273468.1:n.820+928_820+933del
XM_005273412.2:c.821-399_821-394del	XP_005273469.1:n.821-399_821-394del
NM_001363227.1:c.821-399_821-394del	NP_001350156.1:n.821-399_821-394del
NM_001363228.1:c.820+928_820+933del	NP_001350157.1:n.820+928_820+933del
NM_001363229.1:c.-14+928_-14+933del	NP_001350158.1:n.-14+928_-14+933del
XM_005273412.4:c.821-399_821-394del	XP_005273469.1:n.821-399_821-394del
NM_152419.3:c.821-399_821-394del MANE Select	NP_689632.2:n.821-399_821-394del
NM_001363227.2:c.821-399_821-394del	NP_001350156.1:n.821-399_821-394del
NM_001363228.2:c.820+928_820+933del	NP_001350157.1:n.820+928_820+933del
NM_001363229.2:c.-14+928_-14+933del	NP_001350158.1:n.-14+928_-14+933del