Canonical Allele Identifier: CA2499224705

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1065492
• ClinVar RCV Id: RCV001376027
• dbSNP Id: rs2144530119

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185609del , CM000679.2:g.50185609del	GRCh38
NC_000017.10:g.48262970del , CM000679.1:g.48262970del	GRCh37
NC_000017.9:g.45617969del	NCBI36
NG_007400.1:g.21034del , LRG_1:g.21034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4291del MANE Select	ENSP00000225964.6:p.Thr1431ProfsTer?
ENST00000225964.9:c.4291del	ENSP00000225964.5:p.Thr1431ProfsTer?
NM_000088.3:c.4291del , LRG_1t1:c.4291del	NP_000079.2:p.Thr1431ProfsTer?
XM_005257058.3:c.4021del	XP_005257115.2:p.Thr1341ProfsTer?
XM_005257059.3:c.3373del	XP_005257116.2:p.Thr1125ProfsTer?
XM_011524341.1:c.4093del	XP_011522643.1:p.Thr1365ProfsTer?
XM_005257058.4:c.4021del	XP_005257115.2:p.Thr1341ProfsTer?
XM_005257059.4:c.3373del	XP_005257116.2:p.Thr1125ProfsTer?
NM_000088.4:c.4291del MANE Select	NP_000079.2:p.Thr1431ProfsTer?