Canonical Allele Identifier: CA16043767
Gene: COL9A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374501
ClinVar RCV Id: RCV000415882
dbSNP Id: rs1057519130

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.70300155del , CM000668.2:g.70300155del GRCh38
NC_000006.11:g.71009858del , CM000668.1:g.71009858del GRCh37
NC_000006.10:g.71066579del NCBI36
NG_011654.1:g.7930del

Transcript Alleles

HGVS Amino-acid change
ENST00000357250.11:c.188del MANE Select ENSP00000349790.6:p.Phe63SerfsTer3
ENST00000357250.10:c.188del ENSP00000349790.6:p.Phe63SerfsTer3
ENST00000370496.3:c.188del ENSP00000359527.3:p.Phe63SerfsTer3
NM_001851.4:c.188del NP_001842.3:p.Phe63SerfsTer3
XM_011535429.1:c.188del XP_011533731.1:p.Phe63SerfsTer3
XM_011535429.3:c.188del XP_011533731.1:p.Phe63SerfsTer3
NM_001377291.1:c.188del NP_001364220.1:p.Phe63SerfsTer3
NM_001851.5:c.188del NP_001842.3:p.Phe63SerfsTer3
NM_001851.6:c.188del MANE Select NP_001842.3:p.Phe63SerfsTer3