Canonical Allele Identifier: CA2741540610

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195880dup , CM000679.2:g.50195880dup	GRCh38
NC_000017.10:g.48273241dup , CM000679.1:g.48273241dup	GRCh37
NC_000017.9:g.45628240dup	NCBI36
NG_007400.1:g.10761dup , LRG_1:g.10761dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1056+44dup MANE Select	ENSP00000225964.6:n.1056+44dup
ENST00000225964.9:c.1056+44dup	ENSP00000225964.5:n.1056+44dup
NM_000088.3:c.1056+44dup , LRG_1t1:c.1056+44dup	NP_000079.2:n.1056+44dup
XM_005257058.3:c.1056+44dup	XP_005257115.2:n.1056+44dup
XM_005257059.3:c.957+435dup	XP_005257116.2:n.957+435dup
XM_011524341.1:c.958-401dup	XP_011522643.1:n.958-401dup
XM_005257058.4:c.1056+44dup	XP_005257115.2:n.1056+44dup
XM_005257059.4:c.957+435dup	XP_005257116.2:n.957+435dup
NM_000088.4:c.1056+44dup MANE Select	NP_000079.2:n.1056+44dup