Canonical Allele Identifier: CA2739268237

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2822727
• ClinVar RCV Id: RCV003631780

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196345_50196346del , CM000679.2:g.50196345_50196346del	GRCh38
NC_000017.10:g.48273706_48273707del , CM000679.1:g.48273706_48273707del	GRCh37
NC_000017.9:g.45628705_45628706del	NCBI36
NG_007400.1:g.10299_10300del , LRG_1:g.10299_10300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.930_931del MANE Select	ENSP00000225964.6:p.Gly311SerfsTer14
ENST00000225964.9:c.930_931del	ENSP00000225964.5:p.Gly311SerfsTer14
ENST00000485870.1:n.255_256del
NM_000088.3:c.930_931del , LRG_1t1:c.930_931del	NP_000079.2:p.Gly311SerfsTer14
XM_005257058.3:c.930_931del	XP_005257115.2:p.Gly311SerfsTer14
XM_005257059.3:c.930_931del	XP_005257116.2:p.Gly311SerfsTer16
XM_011524341.1:c.930_931del	XP_011522643.1:p.Gly311SerfsTer14
XM_005257058.4:c.930_931del	XP_005257115.2:p.Gly311SerfsTer14
XM_005257059.4:c.930_931del	XP_005257116.2:p.Gly311SerfsTer16
NM_000088.4:c.930_931del MANE Select	NP_000079.2:p.Gly311SerfsTer14