Canonical Allele Identifier: CA2695226637

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193992_50193993insTG , CM000679.2:g.50193992_50193993insTG	GRCh38
NC_000017.10:g.48271353_48271354insTG , CM000679.1:g.48271353_48271354insTG	GRCh37
NC_000017.9:g.45626352_45626353insTG	NCBI36
NG_007400.1:g.12648_12649insAC , LRG_1:g.12648_12649insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1718_1719insAC MANE Select	ENSP00000225964.6:p.Arg574ProfsTer7
ENST00000225964.9:c.1718_1719insAC	ENSP00000225964.5:p.Arg574ProfsTer7
ENST00000463440.1:n.108_109insAC
ENST00000471344.1:n.750_751insAC
ENST00000476387.1:n.67_68insAC
NM_000088.3:c.1718_1719insAC , LRG_1t1:c.1718_1719insAC	NP_000079.2:p.Arg574ProfsTer7
XM_005257058.3:c.1718_1719insAC	XP_005257115.2:p.Arg574ProfsTer7
XM_005257059.3:c.958-1299_958-1298insAC	XP_005257116.2:n.958-1299_958-1298insAC
XM_011524341.1:c.1520_1521insAC	XP_011522643.1:p.Arg508ProfsTer7
XM_005257058.4:c.1718_1719insAC	XP_005257115.2:p.Arg574ProfsTer7
XM_005257059.4:c.958-1299_958-1298insAC	XP_005257116.2:n.958-1299_958-1298insAC
NM_000088.4:c.1718_1719insAC MANE Select	NP_000079.2:p.Arg574ProfsTer7