Canonical Allele Identifier: CA2697560407

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2697480
• ClinVar RCV Id: RCV003517898

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192993del , CM000679.2:g.50192993del	GRCh38
NC_000017.10:g.48270354del , CM000679.1:g.48270354del	GRCh37
NC_000017.9:g.45625353del	NCBI36
NG_007400.1:g.13647del , LRG_1:g.13647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1821+1del MANE Select	ENSP00000225964.6:n.1821+1del
ENST00000225964.9:c.1821+1del	ENSP00000225964.5:n.1821+1del
ENST00000476387.1:n.170+1del
NM_000088.3:c.1821+1del , LRG_1t1:c.1821+1del	NP_000079.2:n.1821+1del
XM_005257058.3:c.1821+1del	XP_005257115.2:n.1821+1del
XM_005257059.3:c.958-300del	XP_005257116.2:n.958-300del
XM_011524341.1:c.1623+1del	XP_011522643.1:n.1623+1del
XM_005257058.4:c.1821+1del	XP_005257115.2:n.1821+1del
XM_005257059.4:c.958-300del	XP_005257116.2:n.958-300del
NM_000088.4:c.1821+1del MANE Select	NP_000079.2:n.1821+1del