Canonical Allele Identifier: CA2263917510

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192684_50192685delinsCA , CM000679.2:g.50192684_50192685delinsCA	GRCh38
NC_000017.10:g.48270045_48270046delinsCA , CM000679.1:g.48270045_48270046delinsCA	GRCh37
NC_000017.9:g.45625044_45625045delinsCA	NCBI36
NG_007400.1:g.13955_13956delinsTG , LRG_1:g.13955_13956delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1884_1885delinsTG MANE Select	ENSP00000225964.6:p.Ala628=
ENST00000225964.9:c.1884_1885delinsTG	ENSP00000225964.5:p.Ala628=
ENST00000476387.1:n.233_234delinsTG
NM_000088.3:c.1884_1885delinsTG , LRG_1t1:c.1884_1885delinsTG	NP_000079.2:p.Ala628=
XM_005257058.3:c.1884_1885delinsTG	XP_005257115.2:p.Ala628=
XM_005257059.3:c.966_967delinsTG	XP_005257116.2:p.Ala322=
XM_011524341.1:c.1686_1687delinsTG	XP_011522643.1:p.Ala562=
XM_005257058.4:c.1884_1885delinsTG	XP_005257115.2:p.Ala628=
XM_005257059.4:c.966_967delinsTG	XP_005257116.2:p.Ala322=
NM_000088.4:c.1884_1885delinsTG MANE Select	NP_000079.2:p.Ala628=