Canonical Allele Identifier: CA2739268230

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2842223
• ClinVar RCV Id: RCV003631996

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199317_50199324del , CM000679.2:g.50199317_50199324del	GRCh38
NC_000017.10:g.48276678_48276685del , CM000679.1:g.48276678_48276685del	GRCh37
NC_000017.9:g.45631677_45631684del	NCBI36
NG_007400.1:g.7319_7326del , LRG_1:g.7319_7326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.376_383del MANE Select	ENSP00000225964.6:p.Ala126ProfsTer?
ENST00000225964.9:c.376_383del	ENSP00000225964.5:p.Ala126ProfsTer?
ENST00000474644.1:n.597_604del
ENST00000507689.1:c.430_437del	ENSP00000460459.1:p.Ala144ProfsTer?
NM_000088.3:c.376_383del , LRG_1t1:c.376_383del	NP_000079.2:p.Ala126ProfsTer?
XM_005257058.3:c.376_383del	XP_005257115.2:p.Ala126ProfsTer?
XM_005257059.3:c.376_383del	XP_005257116.2:p.Ala126ProfsTer?
XM_011524341.1:c.376_383del	XP_011522643.1:p.Ala126ProfsTer?
XM_005257058.4:c.376_383del	XP_005257115.2:p.Ala126ProfsTer?
XM_005257059.4:c.376_383del	XP_005257116.2:p.Ala126ProfsTer?
NM_000088.4:c.376_383del MANE Select	NP_000079.2:p.Ala126ProfsTer?