Canonical Allele Identifier: CA2263917954

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193989_50193990delinsCG , CM000679.2:g.50193989_50193990delinsCG	GRCh38
NC_000017.10:g.48271350_48271351delinsCG , CM000679.1:g.48271350_48271351delinsCG	GRCh37
NC_000017.9:g.45626349_45626350delinsCG	NCBI36
NG_007400.1:g.12650_12651delinsCG , LRG_1:g.12650_12651delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1720_1721delinsCG MANE Select	ENSP00000225964.6:p.Arg574=
ENST00000225964.9:c.1720_1721delinsCG	ENSP00000225964.5:p.Arg574=
ENST00000463440.1:n.110_111delinsCG
ENST00000471344.1:n.752_753delinsCG
ENST00000476387.1:n.69_70delinsCG
NM_000088.3:c.1720_1721delinsCG , LRG_1t1:c.1720_1721delinsCG	NP_000079.2:p.Arg574=
XM_005257058.3:c.1720_1721delinsCG	XP_005257115.2:p.Arg574=
XM_005257059.3:c.958-1297_958-1296delinsCG	XP_005257116.2:n.958-1297_958-1296delinsCG
XM_011524341.1:c.1522_1523delinsCG	XP_011522643.1:p.Arg508=
XM_005257058.4:c.1720_1721delinsCG	XP_005257115.2:p.Arg574=
XM_005257059.4:c.958-1297_958-1296delinsCG	XP_005257116.2:n.958-1297_958-1296delinsCG
NM_000088.4:c.1720_1721delinsCG MANE Select	NP_000079.2:p.Arg574=