Canonical Allele Identifier: CA2697560408
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2768815
ClinVar RCV Id: RCV003517768
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194735dup , CM000679.2:g.50194735dup GRCh38
NC_000017.10:g.48272096dup , CM000679.1:g.48272096dup GRCh37
NC_000017.9:g.45627095dup NCBI36
NG_007400.1:g.11909dup , LRG_1:g.11909dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1451dup MANE Select ENSP00000225964.6:p.Gly485TrpfsTer8
ENST00000225964.9:c.1451dup ENSP00000225964.5:p.Gly485TrpfsTer8
ENST00000471344.1:n.395dup
NM_000088.3:c.1451dup , LRG_1t1:c.1451dup NP_000079.2:p.Gly485TrpfsTer8
XM_005257058.3:c.1451dup XP_005257115.2:p.Gly485TrpfsTer8
XM_005257059.3:c.957+1583dup XP_005257116.2:n.957+1583dup
XM_011524341.1:c.1253dup XP_011522643.1:p.Gly419TrpfsTer8
XM_005257058.4:c.1451dup XP_005257115.2:p.Gly485TrpfsTer8
XM_005257059.4:c.957+1583dup XP_005257116.2:n.957+1583dup
NM_000088.4:c.1451dup MANE Select NP_000079.2:p.Gly485TrpfsTer8
Search 100 bp 5'
Search 100 bp 3'