Canonical Allele Identifier: CA645569622

Gene: COL1A1

Linked Data

• COSMIC: COSM4747178

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185868del , CM000679.2:g.50185868del	GRCh38
NC_000017.10:g.48263229del , CM000679.1:g.48263229del	GRCh37
NC_000017.9:g.45618228del	NCBI36
NG_007400.1:g.20773del , LRG_1:g.20773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4159del MANE Select	ENSP00000225964.6:p.Ala1387ProfsTer?
ENST00000225964.9:c.4159del	ENSP00000225964.5:p.Ala1387ProfsTer?
ENST00000510710.3:n.1124del
NM_000088.3:c.4159del , LRG_1t1:c.4159del	NP_000079.2:p.Ala1387ProfsTer?
XM_005257058.3:c.3889del	XP_005257115.2:p.Ala1297ProfsTer?
XM_005257059.3:c.3241del	XP_005257116.2:p.Ala1081ProfsTer?
XM_011524341.1:c.3961del	XP_011522643.1:p.Ala1321ProfsTer?
XM_005257058.4:c.3889del	XP_005257115.2:p.Ala1297ProfsTer?
XM_005257059.4:c.3241del	XP_005257116.2:p.Ala1081ProfsTer?
NM_000088.4:c.4159del MANE Select	NP_000079.2:p.Ala1387ProfsTer?