Canonical Allele Identifier: CA2580094322

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1701985
• ClinVar RCV Id: RCV002277768
• dbSNP Id: rs2144580715

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196354_50196355del , CM000679.2:g.50196354_50196355del	GRCh38
NC_000017.10:g.48273715_48273716del , CM000679.1:g.48273715_48273716del	GRCh37
NC_000017.9:g.45628714_45628715del	NCBI36
NG_007400.1:g.10285_10286del , LRG_1:g.10285_10286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.916_917del MANE Select	ENSP00000225964.6:p.Leu306AlafsTer3
ENST00000225964.9:c.916_917del	ENSP00000225964.5:p.Leu306AlafsTer3
ENST00000485870.1:n.241_242del
NM_000088.3:c.916_917del , LRG_1t1:c.916_917del	NP_000079.2:p.Leu306AlafsTer3
XM_005257058.3:c.916_917del	XP_005257115.2:p.Leu306AlafsTer3
XM_005257059.3:c.916_917del	XP_005257116.2:p.Leu306AlafsTer3
XM_011524341.1:c.916_917del	XP_011522643.1:p.Leu306AlafsTer3
XM_005257058.4:c.916_917del	XP_005257115.2:p.Leu306AlafsTer3
XM_005257059.4:c.916_917del	XP_005257116.2:p.Leu306AlafsTer3
NM_000088.4:c.916_917del MANE Select	NP_000079.2:p.Leu306AlafsTer3