Canonical Allele Identifier: CA2697560372

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2722167
• ClinVar RCV Id: RCV003518402

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195961_50195969del , CM000679.2:g.50195961_50195969del	GRCh38
NC_000017.10:g.48273322_48273330del , CM000679.1:g.48273322_48273330del	GRCh37
NC_000017.9:g.45628321_45628329del	NCBI36
NG_007400.1:g.10672_10680del , LRG_1:g.10672_10680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1011_1019del MANE Select	ENSP00000225964.6:p.Gly338_Ala340del
ENST00000225964.9:c.1011_1019del	ENSP00000225964.5:p.Gly338_Ala340del
NM_000088.3:c.1011_1019del , LRG_1t1:c.1011_1019del	NP_000079.2:p.Gly338_Ala340del
XM_005257058.3:c.1011_1019del	XP_005257115.2:p.Gly338_Ala340del
XM_005257059.3:c.957+346_957+354del	XP_005257116.2:n.957+346_957+354del
XM_011524341.1:c.957+346_957+354del	XP_011522643.1:n.957+346_957+354del
XM_005257058.4:c.1011_1019del	XP_005257115.2:p.Gly338_Ala340del
XM_005257059.4:c.957+346_957+354del	XP_005257116.2:n.957+346_957+354del
NM_000088.4:c.1011_1019del MANE Select	NP_000079.2:p.Gly338_Ala340del