Canonical Allele Identifier: CA2580081880
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2087753
ClinVar RCV Id: RCV003000103

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72007886del , CM000672.2:g.72007886del GRCh38
NC_000010.10:g.73767644del , CM000672.1:g.73767644del GRCh37
NC_000010.9:g.73437650del NCBI36
NG_012635.1:g.48525del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.855del MANE Select ENSP00000362207.4:p.Leu286TrpfsTer?
ENST00000373115.4:c.855del ENSP00000362207.4:p.Leu286TrpfsTer?
NM_004273.4:c.855del NP_004264.2:p.Leu286TrpfsTer?
XM_006718075.2:c.855del XP_006718138.1:p.Leu286TrpfsTer?
XM_011540369.1:c.855del XP_011538671.1:p.Leu286TrpfsTer?
XM_006718075.4:c.855del XP_006718138.1:p.Leu286TrpfsTer?
XM_011540369.2:c.855del XP_011538671.1:p.Leu286TrpfsTer?
NM_004273.5:c.855del MANE Select NP_004264.2:p.Leu286TrpfsTer?