Canonical Allele Identifier: CA2499224727

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1189150
• ClinVar RCV Id: RCV001549427
• dbSNP Id: rs2144554392

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190332_50190333delinsT , CM000679.2:g.50190332_50190333delinsT	GRCh38
NC_000017.10:g.48267693_48267694delinsT , CM000679.1:g.48267693_48267694delinsT	GRCh37
NC_000017.9:g.45622692_45622693delinsT	NCBI36
NG_007400.1:g.16307_16308delinsA , LRG_1:g.16307_16308delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.2445_2446delinsA MANE Select	ENSP00000225964.6:p.Pro817LeufsTer?
ENST00000225964.9:c.2445_2446delinsA	ENSP00000225964.5:p.Pro817LeufsTer?
ENST00000494334.1:n.372_373delinsA
NM_000088.3:c.2445_2446delinsA , LRG_1t1:c.2445_2446delinsA	NP_000079.2:p.Pro817LeufsTer?
XM_005257058.3:c.2445_2446delinsA	XP_005257115.2:p.Pro817LeufsTer?
XM_005257059.3:c.1527_1528delinsA	XP_005257116.2:p.Pro511LeufsTer?
XM_011524341.1:c.2247_2248delinsA	XP_011522643.1:p.Pro751LeufsTer?
XM_005257058.4:c.2445_2446delinsA	XP_005257115.2:p.Pro817LeufsTer?
XM_005257059.4:c.1527_1528delinsA	XP_005257116.2:p.Pro511LeufsTer?
NM_000088.4:c.2445_2446delinsA MANE Select	NP_000079.2:p.Pro817LeufsTer?