Canonical Allele Identifier: CA891843715

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 583231
• ClinVar RCV Id: RCV000707513
• dbSNP Id: rs1567761649

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196345_50196351delinsACCTCTCA , CM000679.2:g.50196345_50196351delinsACCTCTCA	GRCh38
NC_000017.10:g.48273706_48273712delinsACCTCTCA , CM000679.1:g.48273706_48273712delinsACCTCTCA	GRCh37
NC_000017.9:g.45628705_45628711delinsACCTCTCA	NCBI36
NG_007400.1:g.10289_10295delinsTGAGAGGT , LRG_1:g.10289_10295delinsTGAGAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.920_926delinsTGAGAGGT MANE Select	ENSP00000225964.6:p.Pro307LeufsTer19
ENST00000225964.9:c.920_926delinsTGAGAGGT	ENSP00000225964.5:p.Pro307LeufsTer19
ENST00000485870.1:n.245_251delinsTGAGAGGT
NM_000088.3:c.920_926delinsTGAGAGGT , LRG_1t1:c.920_926delinsTGAGAGGT	NP_000079.2:p.Pro307LeufsTer19
XM_005257058.3:c.920_926delinsTGAGAGGT	XP_005257115.2:p.Pro307LeufsTer19
XM_005257059.3:c.920_926delinsTGAGAGGT	XP_005257116.2:p.Pro307LeufsTer21
XM_011524341.1:c.920_926delinsTGAGAGGT	XP_011522643.1:p.Pro307LeufsTer19
XM_005257058.4:c.920_926delinsTGAGAGGT	XP_005257115.2:p.Pro307LeufsTer19
XM_005257059.4:c.920_926delinsTGAGAGGT	XP_005257116.2:p.Pro307LeufsTer21
NM_000088.4:c.920_926delinsTGAGAGGT MANE Select	NP_000079.2:p.Pro307LeufsTer19