Canonical Allele Identifier: CA2580094158

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2104840
• ClinVar RCV Id: RCV003031584

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185539_50185542dup , CM000679.2:g.50185539_50185542dup	GRCh38
NC_000017.10:g.48262900_48262903dup , CM000679.1:g.48262900_48262903dup	GRCh37
NC_000017.9:g.45617899_45617902dup	NCBI36
NG_007400.1:g.21099_21102dup , LRG_1:g.21099_21102dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4356_4359dup MANE Select	ENSP00000225964.6:p.Phe1454GlyfsTer?
ENST00000225964.9:c.4356_4359dup	ENSP00000225964.5:p.Phe1454GlyfsTer?
NM_000088.3:c.4356_4359dup , LRG_1t1:c.4356_4359dup	NP_000079.2:p.Phe1454GlyfsTer?
XM_005257058.3:c.4086_4089dup	XP_005257115.2:p.Phe1364GlyfsTer?
XM_005257059.3:c.3438_3441dup	XP_005257116.2:p.Phe1148GlyfsTer?
XM_011524341.1:c.4158_4161dup	XP_011522643.1:p.Phe1388GlyfsTer?
XM_005257058.4:c.4086_4089dup	XP_005257115.2:p.Phe1364GlyfsTer?
XM_005257059.4:c.3438_3441dup	XP_005257116.2:p.Phe1148GlyfsTer?
NM_000088.4:c.4356_4359dup MANE Select	NP_000079.2:p.Phe1454GlyfsTer?