Canonical Allele Identifier: CA645293874
Gene: HGSNAT HGNC NCBI

Linked Data

ClinVar Variation Id: 426971
ClinVar RCV Id: RCV000489181 RCV000666153 RCV000691847 RCV003155215
dbSNP Id: rs1085307880
gnomAD v4: 8-43170689-CA-C
MyVariant Identifiers: chr8:g.43025833del (hg19) chr8:g.43170690del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43170690del , CM000670.2:g.43170690del GRCh38
NC_000008.10:g.43025833del , CM000670.1:g.43025833del GRCh37
NC_000008.9:g.43144990del NCBI36
NG_009552.1:g.35242del

Transcript Alleles

HGVS Amino-acid change
ENST00000379644.9:c.739del MANE Select ENSP00000368965.4:p.Arg247GlyfsTer29
ENST00000379644.8:c.739del ENSP00000368965.4:p.Arg247GlyfsTer29
ENST00000520704.1:c.*188del ENSP00000429109.1:n.*188del
NM_152419.2:c.739del NP_689632.2:p.Arg247GlyfsTer29
XM_005273409.1:c.739del XP_005273466.1:p.Arg247GlyfsTer29
XM_005273410.1:c.739del XP_005273467.1:p.Arg247GlyfsTer29
XM_005273411.1:c.739del XP_005273468.1:p.Arg247GlyfsTer?
XM_005273412.2:c.739del XP_005273469.1:p.Arg247GlyfsTer29
NM_001363227.1:c.739del NP_001350156.1:p.Arg247GlyfsTer29
NM_001363228.1:c.739del NP_001350157.1:p.Arg247GlyfsTer?
NM_001363229.1:c.-95del NP_001350158.1:n.-95del
XM_005273412.4:c.739del XP_005273469.1:p.Arg247GlyfsTer29
NM_152419.3:c.739del MANE Select NP_689632.2:p.Arg247GlyfsTer29
NM_001363227.2:c.739del NP_001350156.1:p.Arg247GlyfsTer29
NM_001363228.2:c.739del NP_001350157.1:p.Arg247GlyfsTer?
NM_001363229.2:c.-95del NP_001350158.1:n.-95del
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