Canonical Allele Identifier: CA2580094396

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2116289
• ClinVar RCV Id: RCV003034928

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193033del , CM000679.2:g.50193033del	GRCh38
NC_000017.10:g.48270394del , CM000679.1:g.48270394del	GRCh37
NC_000017.9:g.45625393del	NCBI36
NG_007400.1:g.13608del , LRG_1:g.13608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1783del MANE Select	ENSP00000225964.6:p.Ala595LeufsTer?
ENST00000225964.9:c.1783del	ENSP00000225964.5:p.Ala595LeufsTer?
ENST00000476387.1:n.132del
NM_000088.3:c.1783del , LRG_1t1:c.1783del	NP_000079.2:p.Ala595LeufsTer?
XM_005257058.3:c.1783del	XP_005257115.2:p.Ala595LeufsTer?
XM_005257059.3:c.958-339del	XP_005257116.2:n.958-339del
XM_011524341.1:c.1585del	XP_011522643.1:p.Ala529LeufsTer?
XM_005257058.4:c.1783del	XP_005257115.2:p.Ala595LeufsTer?
XM_005257059.4:c.958-339del	XP_005257116.2:n.958-339del
NM_000088.4:c.1783del MANE Select	NP_000079.2:p.Ala595LeufsTer?