Canonical Allele Identifier: CA2580094147
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2047869
ClinVar RCV Id: RCV002918367
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195968_50195976del , CM000679.2:g.50195968_50195976del GRCh38
NC_000017.10:g.48273329_48273337del , CM000679.1:g.48273329_48273337del GRCh37
NC_000017.9:g.45628328_45628336del NCBI36
NG_007400.1:g.10666_10674del , LRG_1:g.10666_10674del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1005_1013del MANE Select ENSP00000225964.6:p.Pro336_Gly338del
ENST00000225964.9:c.1005_1013del ENSP00000225964.5:p.Pro336_Gly338del
NM_000088.3:c.1005_1013del , LRG_1t1:c.1005_1013del NP_000079.2:p.Pro336_Gly338del
XM_005257058.3:c.1005_1013del XP_005257115.2:p.Pro336_Gly338del
XM_005257059.3:c.957+340_957+348del XP_005257116.2:n.957+340_957+348del
XM_011524341.1:c.957+340_957+348del XP_011522643.1:n.957+340_957+348del
XM_005257058.4:c.1005_1013del XP_005257115.2:p.Pro336_Gly338del
XM_005257059.4:c.957+340_957+348del XP_005257116.2:n.957+340_957+348del
NM_000088.4:c.1005_1013del MANE Select NP_000079.2:p.Pro336_Gly338del
Search 100 bp 5'
Search 100 bp 3'