Canonical Allele Identifier: CA1139665695

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50189413del , CM000679.2:g.50189413del	GRCh38
NC_000017.10:g.48266774del , CM000679.1:g.48266774del	GRCh37
NC_000017.9:g.45621773del	NCBI36
NG_007400.1:g.17227del , LRG_1:g.17227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2793del MANE Select	ENSP00000225964.6:p.Gly932AlafsTer?
ENST00000225964.9:c.2793del	ENSP00000225964.5:p.Gly932AlafsTer?
NM_000088.3:c.2793del , LRG_1t1:c.2793del	NP_000079.2:p.Gly932AlafsTer?
XM_005257058.3:c.2667+266del	XP_005257115.2:n.2667+266del
XM_005257059.3:c.1875del	XP_005257116.2:p.Gly626AlafsTer?
XM_011524341.1:c.2595del	XP_011522643.1:p.Gly866AlafsTer?
XM_005257058.4:c.2667+266del	XP_005257115.2:n.2667+266del
XM_005257059.4:c.1875del	XP_005257116.2:p.Gly626AlafsTer?
NM_000088.4:c.2793del MANE Select	NP_000079.2:p.Gly932AlafsTer?