Canonical Allele Identifier: CA2695226432

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185780_50185790dup , CM000679.2:g.50185780_50185790dup	GRCh38
NC_000017.10:g.48263141_48263151dup , CM000679.1:g.48263141_48263151dup	GRCh37
NC_000017.9:g.45618140_45618150dup	NCBI36
NG_007400.1:g.20852_20862dup , LRG_1:g.20852_20862dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4238_4248dup MANE Select	ENSP00000225964.6:p.Ser1417MetfsTer14
ENST00000225964.9:c.4238_4248dup	ENSP00000225964.5:p.Ser1417MetfsTer14
NM_000088.3:c.4238_4248dup , LRG_1t1:c.4238_4248dup	NP_000079.2:p.Ser1417MetfsTer14
XM_005257058.3:c.3968_3978dup	XP_005257115.2:p.Ser1327MetfsTer14
XM_005257059.3:c.3320_3330dup	XP_005257116.2:p.Ser1111MetfsTer14
XM_011524341.1:c.4040_4050dup	XP_011522643.1:p.Ser1351MetfsTer14
XM_005257058.4:c.3968_3978dup	XP_005257115.2:p.Ser1327MetfsTer14
XM_005257059.4:c.3320_3330dup	XP_005257116.2:p.Ser1111MetfsTer14
NM_000088.4:c.4238_4248dup MANE Select	NP_000079.2:p.Ser1417MetfsTer14