Canonical Allele Identifier: CA581635891

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1195071928
• gnomAD v2: 8-43028457-CTT-C
• gnomAD v3: 8-43173314-CTT-C
• gnomAD v4: 8-43173314-CTT-C
• MyVariant Identifiers: chr8:g.43028458_43028459del (hg19) ; chr8:g.43173315_43173316del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43173325_43173326del , CM000670.2:g.43173325_43173326del	GRCh38
NC_000008.10:g.43028468_43028469del , CM000670.1:g.43028468_43028469del	GRCh37
NC_000008.9:g.43147625_43147626del	NCBI36
NG_009552.1:g.37877_37878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.821-388_821-387del MANE Select	ENSP00000368965.4:n.821-388_821-387del
ENST00000379644.8:c.821-388_821-387del	ENSP00000368965.4:n.821-388_821-387del
ENST00000520704.1:c.*270-388_*270-387del	ENSP00000429109.1:n.*270-388_*270-387del
ENST00000522082.5:c.62-388_62-387del	ENSP00000430151.1:n.62-388_62-387del
NM_152419.2:c.821-388_821-387del	NP_689632.2:n.821-388_821-387del
XM_005273409.1:c.821-388_821-387del	XP_005273466.1:n.821-388_821-387del
XM_005273410.1:c.821-388_821-387del	XP_005273467.1:n.821-388_821-387del
XM_005273411.1:c.820+939_820+940del	XP_005273468.1:n.820+939_820+940del
XM_005273412.2:c.821-388_821-387del	XP_005273469.1:n.821-388_821-387del
NM_001363227.1:c.821-388_821-387del	NP_001350156.1:n.821-388_821-387del
NM_001363228.1:c.820+939_820+940del	NP_001350157.1:n.820+939_820+940del
NM_001363229.1:c.-14+939_-14+940del	NP_001350158.1:n.-14+939_-14+940del
XM_005273412.4:c.821-388_821-387del	XP_005273469.1:n.821-388_821-387del
NM_152419.3:c.821-388_821-387del MANE Select	NP_689632.2:n.821-388_821-387del
NM_001363227.2:c.821-388_821-387del	NP_001350156.1:n.821-388_821-387del
NM_001363228.2:c.820+939_820+940del	NP_001350157.1:n.820+939_820+940del
NM_001363229.2:c.-14+939_-14+940del	NP_001350158.1:n.-14+939_-14+940del