Canonical Allele Identifier: CA2580094410
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2104032
ClinVar RCV Id: RCV003022394
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194018del , CM000679.2:g.50194018del GRCh38
NC_000017.10:g.48271379del , CM000679.1:g.48271379del GRCh37
NC_000017.9:g.45626378del NCBI36
NG_007400.1:g.12625del , LRG_1:g.12625del

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.1695del MANE Select ENSP00000225964.6:p.Gly566AspfsTer14
ENST00000225964.9:c.1695del ENSP00000225964.5:p.Gly566AspfsTer14
ENST00000463440.1:n.85del
ENST00000471344.1:n.727del
ENST00000476387.1:n.44del
NM_000088.3:c.1695del , LRG_1t1:c.1695del NP_000079.2:p.Gly566AspfsTer14
XM_005257058.3:c.1695del XP_005257115.2:p.Gly566AspfsTer14
XM_005257059.3:c.958-1322del XP_005257116.2:n.958-1322del
XM_011524341.1:c.1497del XP_011522643.1:p.Gly500AspfsTer14
XM_005257058.4:c.1695del XP_005257115.2:p.Gly566AspfsTer14
XM_005257059.4:c.958-1322del XP_005257116.2:n.958-1322del
NM_000088.4:c.1695del MANE Select NP_000079.2:p.Gly566AspfsTer14
Search 100 bp 5'
Search 100 bp 3'