Canonical Allele Identifier: CA2687156497

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43200606-C-CCCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43200607_43200608insCTGTC , CM000670.2:g.43200607_43200608insCTGTC	GRCh38
NC_000008.10:g.43055750_43055751insCTGTC , CM000670.1:g.43055750_43055751insCTGTC	GRCh37
NC_000008.9:g.43174907_43174908insCTGTC	NCBI36
NG_009552.1:g.65159_65160insCTGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.*1038_*1039insCTGTC MANE Select	ENSP00000368965.4:n.*1038_*1039insCTGTC
ENST00000379644.8:c.*1038_*1039insCTGTC	ENSP00000368965.4:n.*1038_*1039insCTGTC
NM_152419.2:c.*1038_*1039insCTGTC	NP_689632.2:n.*1038_*1039insCTGTC
XM_005273409.1:c.*1038_*1039insCTGTC	XP_005273466.1:n.*1038_*1039insCTGTC
XM_005273410.1:c.*1038_*1039insCTGTC	XP_005273467.1:n.*1038_*1039insCTGTC
XM_005273411.1:c.*1038_*1039insCTGTC	XP_005273468.1:n.*1038_*1039insCTGTC
NM_001363227.1:c.*1038_*1039insCTGTC	NP_001350156.1:n.*1038_*1039insCTGTC
NM_001363228.1:c.*1038_*1039insCTGTC	NP_001350157.1:n.*1038_*1039insCTGTC
NM_001363229.1:c.*1038_*1039insCTGTC	NP_001350158.1:n.*1038_*1039insCTGTC
NM_152419.3:c.*1038_*1039insCTGTC MANE Select	NP_689632.2:n.*1038_*1039insCTGTC
NM_001363227.2:c.*1038_*1039insCTGTC	NP_001350156.1:n.*1038_*1039insCTGTC
NM_001363228.2:c.*1038_*1039insCTGTC	NP_001350157.1:n.*1038_*1039insCTGTC
NM_001363229.2:c.*1038_*1039insCTGTC	NP_001350158.1:n.*1038_*1039insCTGTC