Canonical Allele Identifier: CA2580094388

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2082749
• ClinVar RCV Id: RCV002999374

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192803del , CM000679.2:g.50192803del	GRCh38
NC_000017.10:g.48270164del , CM000679.1:g.48270164del	GRCh37
NC_000017.9:g.45625163del	NCBI36
NG_007400.1:g.13839del , LRG_1:g.13839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1871del MANE Select	ENSP00000225964.6:p.Pro624LeufsTer?
ENST00000225964.9:c.1871del	ENSP00000225964.5:p.Pro624LeufsTer?
ENST00000476387.1:n.220del
NM_000088.3:c.1871del , LRG_1t1:c.1871del	NP_000079.2:p.Pro624LeufsTer?
XM_005257058.3:c.1871del	XP_005257115.2:p.Pro624LeufsTer?
XM_005257059.3:c.958-108del	XP_005257116.2:n.958-108del
XM_011524341.1:c.1673del	XP_011522643.1:p.Pro558LeufsTer?
XM_005257058.4:c.1871del	XP_005257115.2:p.Pro624LeufsTer?
XM_005257059.4:c.958-108del	XP_005257116.2:n.958-108del
NM_000088.4:c.1871del MANE Select	NP_000079.2:p.Pro624LeufsTer?