Canonical Allele Identifier: CA2695226559

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199324dup , CM000679.2:g.50199324dup	GRCh38
NC_000017.10:g.48276685dup , CM000679.1:g.48276685dup	GRCh37
NC_000017.9:g.45631684dup	NCBI36
NG_007400.1:g.7318dup , LRG_1:g.7318dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.375dup MANE Select	ENSP00000225964.6:p.Ala126ArgfsTer?
ENST00000225964.9:c.375dup	ENSP00000225964.5:p.Ala126ArgfsTer?
ENST00000474644.1:n.596dup
ENST00000507689.1:c.429dup	ENSP00000460459.1:p.Ala144ArgfsTer?
NM_000088.3:c.375dup , LRG_1t1:c.375dup	NP_000079.2:p.Ala126ArgfsTer?
XM_005257058.3:c.375dup	XP_005257115.2:p.Ala126ArgfsTer?
XM_005257059.3:c.375dup	XP_005257116.2:p.Ala126ArgfsTer?
XM_011524341.1:c.375dup	XP_011522643.1:p.Ala126ArgfsTer?
XM_005257058.4:c.375dup	XP_005257115.2:p.Ala126ArgfsTer?
XM_005257059.4:c.375dup	XP_005257116.2:p.Ala126ArgfsTer?
NM_000088.4:c.375dup MANE Select	NP_000079.2:p.Ala126ArgfsTer?