Canonical Allele Identifier: CA2263919604

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197104_50197105delinsAC , CM000679.2:g.50197104_50197105delinsAC	GRCh38
NC_000017.10:g.48274465_48274466delinsAC , CM000679.1:g.48274465_48274466delinsAC	GRCh37
NC_000017.9:g.45629464_45629465delinsAC	NCBI36
NG_007400.1:g.9535_9536delinsGT , LRG_1:g.9535_9536delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.751-42_751-41delinsGT MANE Select	ENSP00000225964.6:n.751-42_751-41delinsGT...
ENST00000225964.9:c.751-42_751-41delinsGT	ENSP00000225964.5:n.751-42_751-41delinsGT...
ENST00000495677.1:n.478-42_478-41delinsGT
NM_000088.3:c.751-42_751-41delinsGT , LRG_1t1:c.751-42_751-41delinsGT	NP_000079.2:n.751-42_751-41delinsGT
XM_005257058.3:c.751-42_751-41delinsGT	XP_005257115.2:n.751-42_751-41delinsGT
XM_005257059.3:c.751-42_751-41delinsGT	XP_005257116.2:n.751-42_751-41delinsGT
XM_011524341.1:c.751-42_751-41delinsGT	XP_011522643.1:n.751-42_751-41delinsGT
XM_005257058.4:c.751-42_751-41delinsGT	XP_005257115.2:n.751-42_751-41delinsGT
XM_005257059.4:c.751-42_751-41delinsGT	XP_005257116.2:n.751-42_751-41delinsGT
NM_000088.4:c.751-42_751-41delinsGT MANE Select	NP_000079.2:n.751-42_751-41delinsGT