Canonical Allele Identifier: CA2573145449
Gene: CHST3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1452559
ClinVar RCV Id: RCV001999870
dbSNP Id: rs2131776376
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72008181_72008197del , CM000672.2:g.72008181_72008197del GRCh38
NC_000010.10:g.73767939_73767955del , CM000672.1:g.73767939_73767955del GRCh37
NC_000010.9:g.73437945_73437961del NCBI36
NG_012635.1:g.48820_48836del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373115.5:c.1150_1166del MANE Select ENSP00000362207.4:p.Glu384ArgfsTer?
ENST00000373115.4:c.1150_1166del ENSP00000362207.4:p.Glu384ArgfsTer?
NM_004273.4:c.1150_1166del NP_004264.2:p.Glu384ArgfsTer?
XM_006718075.2:c.1150_1166del XP_006718138.1:p.Glu384ArgfsTer?
XM_011540369.1:c.1150_1166del XP_011538671.1:p.Glu384ArgfsTer?
XM_006718075.4:c.1150_1166del XP_006718138.1:p.Glu384ArgfsTer?
XM_011540369.2:c.1150_1166del XP_011538671.1:p.Glu384ArgfsTer?
NM_004273.5:c.1150_1166del MANE Select NP_004264.2:p.Glu384ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'