Canonical Allele Identifier: CA581638147

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1350733984
• gnomAD v2: 8-43047380-TTTATTCTTGTCCCTCTGTTCGCCCTTA-T
• gnomAD v3: 8-43192237-TTTATTCTTGTCCCTCTGTTCGCCCTTA-T
• gnomAD v4: 8-43192237-TTTATTCTTGTCCCTCTGTTCGCCCTTA-T
• MyVariant Identifiers: chr8:g.43047381_43047407del (hg19) ; chr8:g.43192238_43192264del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192239_43192265del , CM000670.2:g.43192239_43192265del	GRCh38
NC_000008.10:g.43047382_43047408del , CM000670.1:g.43047382_43047408del	GRCh37
NC_000008.9:g.43166539_43166565del	NCBI36
NG_009552.1:g.56791_56817del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1251-65_1251-39del MANE Select	ENSP00000368965.4:n.1251-65_1251-39del
ENST00000379644.8:c.1251-65_1251-39del	ENSP00000368965.4:n.1251-65_1251-39del
ENST00000520678.1:n.184-65_184-39del
ENST00000521576.1:c.402-65_402-39del	ENSP00000429029.1:n.402-65_402-39del
ENST00000524016.5:c.355-65_355-39del
NM_152419.2:c.1251-65_1251-39del	NP_689632.2:n.1251-65_1251-39del
XM_005273409.1:c.1251-65_1251-39del	XP_005273466.1:n.1251-65_1251-39del
XM_005273410.1:c.1251-65_1251-39del	XP_005273467.1:n.1251-65_1251-39del
XM_005273411.1:c.1059-65_1059-39del	XP_005273468.1:n.1059-65_1059-39del
XM_005273412.2:c.1251-65_1251-39del	XP_005273469.1:n.1251-65_1251-39del
NM_001363227.1:c.1251-65_1251-39del	NP_001350156.1:n.1251-65_1251-39del
NM_001363228.1:c.1059-65_1059-39del	NP_001350157.1:n.1059-65_1059-39del
NM_001363229.1:c.387-65_387-39del	NP_001350158.1:n.387-65_387-39del
XM_005273412.4:c.1251-65_1251-39del	XP_005273469.1:n.1251-65_1251-39del
NM_152419.3:c.1251-65_1251-39del MANE Select	NP_689632.2:n.1251-65_1251-39del
NM_001363227.2:c.1251-65_1251-39del	NP_001350156.1:n.1251-65_1251-39del
NM_001363228.2:c.1059-65_1059-39del	NP_001350157.1:n.1059-65_1059-39del
NM_001363229.2:c.387-65_387-39del	NP_001350158.1:n.387-65_387-39del