Canonical Allele Identifier: CA2263918827

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195614_50195615delinsGC , CM000679.2:g.50195614_50195615delinsGC	GRCh38
NC_000017.10:g.48272975_48272976delinsGC , CM000679.1:g.48272975_48272976delinsGC	GRCh37
NC_000017.9:g.45627974_45627975delinsGC	NCBI36
NG_007400.1:g.11025_11026delinsGC , LRG_1:g.11025_11026delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1107_1108delinsGC MANE Select	ENSP00000225964.6:p.Val369=
ENST00000225964.9:c.1107_1108delinsGC	ENSP00000225964.5:p.Val369=
ENST00000471344.1:n.51_52delinsGC
NM_000088.3:c.1107_1108delinsGC , LRG_1t1:c.1107_1108delinsGC	NP_000079.2:p.Val369=
XM_005257058.3:c.1107_1108delinsGC	XP_005257115.2:p.Val369=
XM_005257059.3:c.957+699_957+700delinsGC	XP_005257116.2:n.957+699_957+700delinsGC
XM_011524341.1:c.958-137_958-136delinsGC	XP_011522643.1:n.958-137_958-136delinsGC
XM_005257058.4:c.1107_1108delinsGC	XP_005257115.2:p.Val369=
XM_005257059.4:c.957+699_957+700delinsGC	XP_005257116.2:n.957+699_957+700delinsGC
NM_000088.4:c.1107_1108delinsGC MANE Select	NP_000079.2:p.Val369=