Canonical Allele Identifier: CA2263914996

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188131_50188132delinsCG , CM000679.2:g.50188131_50188132delinsCG	GRCh38
NC_000017.10:g.48265492_48265493delinsCG , CM000679.1:g.48265492_48265493delinsCG	GRCh37
NC_000017.9:g.45620491_45620492delinsCG	NCBI36
NG_007400.1:g.18508_18509delinsCG , LRG_1:g.18508_18509delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3225_3226delinsCG MANE Select	ENSP00000225964.6:p.Ala1075=
ENST00000225964.9:c.3225_3226delinsCG	ENSP00000225964.5:p.Ala1075=
ENST00000486572.1:n.423_424delinsCG
ENST00000511732.1:n.549_550delinsCG
NM_000088.3:c.3225_3226delinsCG , LRG_1t1:c.3225_3226delinsCG	NP_000079.2:p.Ala1075=
XM_005257058.3:c.2955_2956delinsCG	XP_005257115.2:p.Ala985=
XM_005257059.3:c.2307_2308delinsCG	XP_005257116.2:p.Ala769=
XM_011524341.1:c.3027_3028delinsCG	XP_011522643.1:p.Ala1009=
XM_005257058.4:c.2955_2956delinsCG	XP_005257115.2:p.Ala985=
XM_005257059.4:c.2307_2308delinsCG	XP_005257116.2:p.Ala769=
NM_000088.4:c.3225_3226delinsCG MANE Select	NP_000079.2:p.Ala1075=