Canonical Allele Identifier: CA2695226554

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199263_50199264insG , CM000679.2:g.50199263_50199264insG	GRCh38
NC_000017.10:g.48276624_48276625insG , CM000679.1:g.48276624_48276625insG	GRCh37
NC_000017.9:g.45631623_45631624insG	NCBI36
NG_007400.1:g.7376_7377insC , LRG_1:g.7376_7377insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.433_434insC MANE Select	ENSP00000225964.6:p.Gly145AlafsTer24
ENST00000225964.9:c.433_434insC	ENSP00000225964.5:p.Gly145AlafsTer24
NM_000088.3:c.433_434insC , LRG_1t1:c.433_434insC	NP_000079.2:p.Gly145AlafsTer24
XM_005257058.3:c.433_434insC	XP_005257115.2:p.Gly145AlafsTer24
XM_005257059.3:c.433_434insC	XP_005257116.2:p.Gly145AlafsTer24
XM_011524341.1:c.433_434insC	XP_011522643.1:p.Gly145AlafsTer24
XM_005257058.4:c.433_434insC	XP_005257115.2:p.Gly145AlafsTer24
XM_005257059.4:c.433_434insC	XP_005257116.2:p.Gly145AlafsTer24
NM_000088.4:c.433_434insC MANE Select	NP_000079.2:p.Gly145AlafsTer24