Canonical Allele Identifier: CA260283
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 35905
ClinVar RCV Id: RCV000029560 RCV001807741 RCV002470719
dbSNP Id: rs193922143
MyVariant Identifiers: chr17:g.48270364del (hg19) chr17:g.50193003del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50193003del , CM000679.2:g.50193003del GRCh38
NC_000017.10:g.48270364del , CM000679.1:g.48270364del GRCh37
NC_000017.9:g.45625363del NCBI36
NG_007400.1:g.13637del , LRG_1:g.13637del

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.1812del MANE Select ENSP00000225964.6:p.Gly605AlafsTer?
ENST00000225964.9:c.1812del ENSP00000225964.5:p.Gly605AlafsTer?
ENST00000476387.1:n.161del
NM_000088.3:c.1812del , LRG_1t1:c.1812del NP_000079.2:p.Gly605AlafsTer?
XM_005257058.3:c.1812del XP_005257115.2:p.Gly605AlafsTer?
XM_005257059.3:c.958-310del XP_005257116.2:n.958-310del
XM_011524341.1:c.1614del XP_011522643.1:p.Gly539AlafsTer?
XM_005257058.4:c.1812del XP_005257115.2:p.Gly605AlafsTer?
XM_005257059.4:c.958-310del XP_005257116.2:n.958-310del
NM_000088.4:c.1812del MANE Select NP_000079.2:p.Gly605AlafsTer?
Search 100 bp 5'
Search 100 bp 3'