Canonical Allele Identifier: CA2695226655
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194802dup , CM000679.2:g.50194802dup GRCh38
NC_000017.10:g.48272163dup , CM000679.1:g.48272163dup GRCh37
NC_000017.9:g.45627162dup NCBI36
NG_007400.1:g.11838dup , LRG_1:g.11838dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1380dup MANE Select ENSP00000225964.6:p.Gly461TrpfsTer14
ENST00000225964.9:c.1380dup ENSP00000225964.5:p.Gly461TrpfsTer14
ENST00000471344.1:n.324dup
NM_000088.3:c.1380dup , LRG_1t1:c.1380dup NP_000079.2:p.Gly461TrpfsTer14
XM_005257058.3:c.1380dup XP_005257115.2:p.Gly461TrpfsTer14
XM_005257059.3:c.957+1512dup XP_005257116.2:n.957+1512dup
XM_011524341.1:c.1182dup XP_011522643.1:p.Gly395TrpfsTer14
XM_005257058.4:c.1380dup XP_005257115.2:p.Gly461TrpfsTer14
XM_005257059.4:c.957+1512dup XP_005257116.2:n.957+1512dup
NM_000088.4:c.1380dup MANE Select NP_000079.2:p.Gly461TrpfsTer14
Search 100 bp 5'
Search 100 bp 3'