Canonical Allele Identifier: CA2809757420

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196564dup , CM000679.2:g.50196564dup	GRCh38
NC_000017.10:g.48273925dup , CM000679.1:g.48273925dup	GRCh37
NC_000017.9:g.45628924dup	NCBI36
NG_007400.1:g.10076dup , LRG_1:g.10076dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.859-36dup MANE Select	ENSP00000225964.6:n.859-36dup
ENST00000225964.9:c.859-36dup	ENSP00000225964.5:n.859-36dup
ENST00000485870.1:n.32dup
ENST00000495677.1:n.586-36dup
NM_000088.3:c.859-36dup , LRG_1t1:c.859-36dup	NP_000079.2:n.859-36dup
XM_005257058.3:c.859-36dup	XP_005257115.2:n.859-36dup
XM_005257059.3:c.859-36dup	XP_005257116.2:n.859-36dup
XM_011524341.1:c.859-36dup	XP_011522643.1:n.859-36dup
XM_005257058.4:c.859-36dup	XP_005257115.2:n.859-36dup
XM_005257059.4:c.859-36dup	XP_005257116.2:n.859-36dup
NM_000088.4:c.859-36dup MANE Select	NP_000079.2:n.859-36dup