Canonical Allele Identifier: CA2263919212

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196344_50196351delinsCTCACCAG , CM000679.2:g.50196344_50196351delinsCTCACCAG	GRCh38
NC_000017.10:g.48273705_48273712delinsCTCACCAG , CM000679.1:g.48273705_48273712delinsCTCACCAG	GRCh37
NC_000017.9:g.45628704_45628711delinsCTCACCAG	NCBI36
NG_007400.1:g.10289_10296delinsCTGGTGAG , LRG_1:g.10289_10296delinsCTGGTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.920_927delinsCTGGTGAG MANE Select	ENSP00000225964.6:p.Pro307=
ENST00000225964.9:c.920_927delinsCTGGTGAG	ENSP00000225964.5:p.Pro307=
ENST00000485870.1:n.245_252delinsCTGGTGAG
NM_000088.3:c.920_927delinsCTGGTGAG , LRG_1t1:c.920_927delinsCTGGTGAG	NP_000079.2:p.Pro307=
XM_005257058.3:c.920_927delinsCTGGTGAG	XP_005257115.2:p.Pro307=
XM_005257059.3:c.920_927delinsCTGGTGAG	XP_005257116.2:p.Pro307=
XM_011524341.1:c.920_927delinsCTGGTGAG	XP_011522643.1:p.Pro307=
XM_005257058.4:c.920_927delinsCTGGTGAG	XP_005257115.2:p.Pro307=
XM_005257059.4:c.920_927delinsCTGGTGAG	XP_005257116.2:p.Pro307=
NM_000088.4:c.920_927delinsCTGGTGAG MANE Select	NP_000079.2:p.Pro307=