Canonical Allele Identifier: CA2840989957

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194011dup , CM000679.2:g.50194011dup	GRCh38
NC_000017.10:g.48271372dup , CM000679.1:g.48271372dup	GRCh37
NC_000017.9:g.45626371dup	NCBI36
NG_007400.1:g.12633dup , LRG_1:g.12633dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1703dup MANE Select	ENSP00000225964.6:p.Gly569ArgfsTer18
ENST00000225964.9:c.1703dup	ENSP00000225964.5:p.Gly569ArgfsTer18
ENST00000463440.1:n.93dup
ENST00000471344.1:n.735dup
ENST00000476387.1:n.52dup
NM_000088.3:c.1703dup , LRG_1t1:c.1703dup	NP_000079.2:p.Gly569ArgfsTer18
XM_005257058.3:c.1703dup	XP_005257115.2:p.Gly569ArgfsTer18
XM_005257059.3:c.958-1314dup	XP_005257116.2:n.958-1314dup
XM_011524341.1:c.1505dup	XP_011522643.1:p.Gly503ArgfsTer18
XM_005257058.4:c.1703dup	XP_005257115.2:p.Gly569ArgfsTer18
XM_005257059.4:c.958-1314dup	XP_005257116.2:n.958-1314dup
NM_000088.4:c.1703dup MANE Select	NP_000079.2:p.Gly569ArgfsTer18