Canonical Allele Identifier: CA2809757585

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197226dup , CM000679.2:g.50197226dup	GRCh38
NC_000017.10:g.48274587dup , CM000679.1:g.48274587dup	GRCh37
NC_000017.9:g.45629586dup	NCBI36
NG_007400.1:g.9414dup , LRG_1:g.9414dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.704dup MANE Select	ENSP00000225964.6:p.Gly236TrpfsTer8
ENST00000225964.9:c.704dup	ENSP00000225964.5:p.Gly236TrpfsTer8
ENST00000495677.1:n.431dup
NM_000088.3:c.704dup , LRG_1t1:c.704dup	NP_000079.2:p.Gly236TrpfsTer8
XM_005257058.3:c.704dup	XP_005257115.2:p.Gly236TrpfsTer8
XM_005257059.3:c.704dup	XP_005257116.2:p.Gly236TrpfsTer8
XM_011524341.1:c.704dup	XP_011522643.1:p.Gly236TrpfsTer8
XM_005257058.4:c.704dup	XP_005257115.2:p.Gly236TrpfsTer8
XM_005257059.4:c.704dup	XP_005257116.2:p.Gly236TrpfsTer8
NM_000088.4:c.704dup MANE Select	NP_000079.2:p.Gly236TrpfsTer8