Canonical Allele Identifier: CA581638989

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1221530813
• gnomAD v2: 8-43052771-GATA-G
• gnomAD v4: 8-43197628-GATA-G
• MyVariant Identifiers: chr8:g.43052772_43052774del (hg19) ; chr8:g.43197629_43197631del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197635_43197637del , CM000670.2:g.43197635_43197637del	GRCh38
NC_000008.10:g.43052778_43052780del , CM000670.1:g.43052778_43052780del	GRCh37
NC_000008.9:g.43171935_43171937del	NCBI36
NG_009552.1:g.62187_62189del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1543-37_1543-35del MANE Select	ENSP00000368965.4:n.1543-37_1543-35del
ENST00000379644.8:c.1543-37_1543-35del	ENSP00000368965.4:n.1543-37_1543-35del
ENST00000519705.1:n.859-37_859-35del
ENST00000521576.1:c.694-37_694-35del	ENSP00000429029.1:n.694-37_694-35del
ENST00000523989.1:n.1819_1821del
NM_152419.2:c.1543-37_1543-35del	NP_689632.2:n.1543-37_1543-35del
XM_005273409.1:c.1654-37_1654-35del	XP_005273466.1:n.1654-37_1654-35del
XM_005273410.1:c.1630-37_1630-35del	XP_005273467.1:n.1630-37_1630-35del
XM_005273411.1:c.1462-37_1462-35del	XP_005273468.1:n.1462-37_1462-35del
NM_001363227.1:c.1630-37_1630-35del	NP_001350156.1:n.1630-37_1630-35del
NM_001363228.1:c.1351-37_1351-35del	NP_001350157.1:n.1351-37_1351-35del
NM_001363229.1:c.679-37_679-35del	NP_001350158.1:n.679-37_679-35del
NM_152419.3:c.1543-37_1543-35del MANE Select	NP_689632.2:n.1543-37_1543-35del
NM_001363227.2:c.1630-37_1630-35del	NP_001350156.1:n.1630-37_1630-35del
NM_001363228.2:c.1351-37_1351-35del	NP_001350157.1:n.1351-37_1351-35del
NM_001363229.2:c.679-37_679-35del	NP_001350158.1:n.679-37_679-35del