Canonical Allele Identifier: CA2831039644
Gene: COL1A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199278_50199284dup , CM000679.2:g.50199278_50199284dup GRCh38
NC_000017.10:g.48276639_48276645dup , CM000679.1:g.48276639_48276645dup GRCh37
NC_000017.9:g.45631638_45631644dup NCBI36
NG_007400.1:g.7356_7362dup , LRG_1:g.7356_7362dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.413_419dup MANE Select ENSP00000225964.6:p.Pro141TrpfsTer30
ENST00000225964.9:c.413_419dup ENSP00000225964.5:p.Pro141TrpfsTer30
NM_000088.3:c.413_419dup , LRG_1t1:c.413_419dup NP_000079.2:p.Pro141TrpfsTer30
XM_005257058.3:c.413_419dup XP_005257115.2:p.Pro141TrpfsTer30
XM_005257059.3:c.413_419dup XP_005257116.2:p.Pro141TrpfsTer30
XM_011524341.1:c.413_419dup XP_011522643.1:p.Pro141TrpfsTer30
XM_005257058.4:c.413_419dup XP_005257115.2:p.Pro141TrpfsTer30
XM_005257059.4:c.413_419dup XP_005257116.2:p.Pro141TrpfsTer30
NM_000088.4:c.413_419dup MANE Select NP_000079.2:p.Pro141TrpfsTer30
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