Canonical Allele Identifier: CA2695200284

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2663813
• ClinVar RCV Id: RCV003444020

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190327_50190328insC , CM000679.2:g.50190327_50190328insC	GRCh38
NC_000017.10:g.48267688_48267689insC , CM000679.1:g.48267688_48267689insC	GRCh37
NC_000017.9:g.45622687_45622688insC	NCBI36
NG_007400.1:g.16312_16313insG , LRG_1:g.16312_16313insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2450_2451insG MANE Select	ENSP00000225964.6:p.Gly818TrpfsTer3
ENST00000225964.9:c.2450_2451insG	ENSP00000225964.5:p.Gly818TrpfsTer3
ENST00000494334.1:n.377_378insG
NM_000088.3:c.2450_2451insG , LRG_1t1:c.2450_2451insG	NP_000079.2:p.Gly818TrpfsTer3
XM_005257058.3:c.2450_2451insG	XP_005257115.2:p.Gly818TrpfsTer3
XM_005257059.3:c.1532_1533insG	XP_005257116.2:p.Gly512TrpfsTer3
XM_011524341.1:c.2252_2253insG	XP_011522643.1:p.Gly752TrpfsTer3
XM_005257058.4:c.2450_2451insG	XP_005257115.2:p.Gly818TrpfsTer3
XM_005257059.4:c.1532_1533insG	XP_005257116.2:p.Gly512TrpfsTer3
NM_000088.4:c.2450_2451insG MANE Select	NP_000079.2:p.Gly818TrpfsTer3