Canonical Allele Identifier: CA2580094384

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2444032
• ClinVar RCV Id: RCV003152830

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199276del , CM000679.2:g.50199276del	GRCh38
NC_000017.10:g.48276637del , CM000679.1:g.48276637del	GRCh37
NC_000017.9:g.45631636del	NCBI36
NG_007400.1:g.7366del , LRG_1:g.7366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.423del MANE Select	ENSP00000225964.6:p.Gly142AspfsTer?
ENST00000225964.9:c.423del	ENSP00000225964.5:p.Gly142AspfsTer?
NM_000088.3:c.423del , LRG_1t1:c.423del	NP_000079.2:p.Gly142AspfsTer?
XM_005257058.3:c.423del	XP_005257115.2:p.Gly142AspfsTer?
XM_005257059.3:c.423del	XP_005257116.2:p.Gly142AspfsTer?
XM_011524341.1:c.423del	XP_011522643.1:p.Gly142AspfsTer?
XM_005257058.4:c.423del	XP_005257115.2:p.Gly142AspfsTer?
XM_005257059.4:c.423del	XP_005257116.2:p.Gly142AspfsTer?
NM_000088.4:c.423del MANE Select	NP_000079.2:p.Gly142AspfsTer?