Canonical Allele Identifier: CA2695200283

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2630334
• ClinVar RCV Id: RCV004550629

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196311del , CM000679.2:g.50196311del	GRCh38
NC_000017.10:g.48273672del , CM000679.1:g.48273672del	GRCh37
NC_000017.9:g.45628671del	NCBI36
NG_007400.1:g.10330del , LRG_1:g.10330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.957+4del MANE Select	ENSP00000225964.6:n.957+4del
ENST00000225964.9:c.957+4del	ENSP00000225964.5:n.957+4del
ENST00000485870.1:n.282+4del
NM_000088.3:c.957+4del , LRG_1t1:c.957+4del	NP_000079.2:n.957+4del
XM_005257058.3:c.957+4del	XP_005257115.2:n.957+4del
XM_005257059.3:c.957+4del	XP_005257116.2:n.957+4del
XM_011524341.1:c.957+4del	XP_011522643.1:n.957+4del
XM_005257058.4:c.957+4del	XP_005257115.2:n.957+4del
XM_005257059.4:c.957+4del	XP_005257116.2:n.957+4del
NM_000088.4:c.957+4del MANE Select	NP_000079.2:n.957+4del