Canonical Allele Identifier: CA851977854

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1425810110
• gnomAD v3: 8-43173304-TTTTC-T
• gnomAD v4: 8-43173304-TTTTC-T
• MyVariant Identifiers: chr8:g.43028448_43028451del (hg19) ; chr8:g.43173305_43173308del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43173308_43173311del , CM000670.2:g.43173308_43173311del	GRCh38
NC_000008.10:g.43028451_43028454del , CM000670.1:g.43028451_43028454del	GRCh37
NC_000008.9:g.43147608_43147611del	NCBI36
NG_009552.1:g.37860_37863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.821-405_821-402del MANE Select	ENSP00000368965.4:n.821-405_821-402del
ENST00000379644.8:c.821-405_821-402del	ENSP00000368965.4:n.821-405_821-402del
ENST00000520704.1:c.*270-405_*270-402del	ENSP00000429109.1:n.*270-405_*270-402del
ENST00000522082.5:c.62-405_62-402del	ENSP00000430151.1:n.62-405_62-402del
NM_152419.2:c.821-405_821-402del	NP_689632.2:n.821-405_821-402del
XM_005273409.1:c.821-405_821-402del	XP_005273466.1:n.821-405_821-402del
XM_005273410.1:c.821-405_821-402del	XP_005273467.1:n.821-405_821-402del
XM_005273411.1:c.820+922_820+925del	XP_005273468.1:n.820+922_820+925del
XM_005273412.2:c.821-405_821-402del	XP_005273469.1:n.821-405_821-402del
NM_001363227.1:c.821-405_821-402del	NP_001350156.1:n.821-405_821-402del
NM_001363228.1:c.820+922_820+925del	NP_001350157.1:n.820+922_820+925del
NM_001363229.1:c.-14+922_-14+925del	NP_001350158.1:n.-14+922_-14+925del
XM_005273412.4:c.821-405_821-402del	XP_005273469.1:n.821-405_821-402del
NM_152419.3:c.821-405_821-402del MANE Select	NP_689632.2:n.821-405_821-402del
NM_001363227.2:c.821-405_821-402del	NP_001350156.1:n.821-405_821-402del
NM_001363228.2:c.820+922_820+925del	NP_001350157.1:n.820+922_820+925del
NM_001363229.2:c.-14+922_-14+925del	NP_001350158.1:n.-14+922_-14+925del