Canonical Allele Identifier: CA2695226628

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192653dup , CM000679.2:g.50192653dup	GRCh38
NC_000017.10:g.48270014dup , CM000679.1:g.48270014dup	GRCh37
NC_000017.9:g.45625013dup	NCBI36
NG_007400.1:g.13991dup , LRG_1:g.13991dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1920dup MANE Select	ENSP00000225964.6:p.Gly641ArgfsTer14
ENST00000225964.9:c.1920dup	ENSP00000225964.5:p.Gly641ArgfsTer14
ENST00000476387.1:n.269dup
NM_000088.3:c.1920dup , LRG_1t1:c.1920dup	NP_000079.2:p.Gly641ArgfsTer14
XM_005257058.3:c.1920dup	XP_005257115.2:p.Gly641ArgfsTer14
XM_005257059.3:c.1002dup	XP_005257116.2:p.Gly335ArgfsTer14
XM_011524341.1:c.1722dup	XP_011522643.1:p.Gly575ArgfsTer14
XM_005257058.4:c.1920dup	XP_005257115.2:p.Gly641ArgfsTer14
XM_005257059.4:c.1002dup	XP_005257116.2:p.Gly335ArgfsTer14
NM_000088.4:c.1920dup MANE Select	NP_000079.2:p.Gly641ArgfsTer14