Canonical Allele Identifier: CA2263919357

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196641_50196642delinsTC , CM000679.2:g.50196641_50196642delinsTC	GRCh38
NC_000017.10:g.48274002_48274003delinsTC , CM000679.1:g.48274002_48274003delinsTC	GRCh37
NC_000017.9:g.45629001_45629002delinsTC	NCBI36
NG_007400.1:g.9998_9999delinsGA , LRG_1:g.9998_9999delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.833_834delinsGA MANE Select	ENSP00000225964.6:p.Gly278=
ENST00000225964.9:c.833_834delinsGA	ENSP00000225964.5:p.Gly278=
ENST00000495677.1:n.560_561delinsGA
NM_000088.3:c.833_834delinsGA , LRG_1t1:c.833_834delinsGA	NP_000079.2:p.Gly278=
XM_005257058.3:c.833_834delinsGA	XP_005257115.2:p.Gly278=
XM_005257059.3:c.833_834delinsGA	XP_005257116.2:p.Gly278=
XM_011524341.1:c.833_834delinsGA	XP_011522643.1:p.Gly278=
XM_005257058.4:c.833_834delinsGA	XP_005257115.2:p.Gly278=
XM_005257059.4:c.833_834delinsGA	XP_005257116.2:p.Gly278=
NM_000088.4:c.833_834delinsGA MANE Select	NP_000079.2:p.Gly278=