Canonical Allele Identifier: CA2695226560

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199328_50199330delinsGA , CM000679.2:g.50199328_50199330delinsGA	GRCh38
NC_000017.10:g.48276689_48276691delinsGA , CM000679.1:g.48276689_48276691delinsGA	GRCh37
NC_000017.9:g.45631688_45631690delinsGA	NCBI36
NG_007400.1:g.7310_7312delinsTC , LRG_1:g.7310_7312delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.370-3_370-1delinsTC MANE Select	ENSP00000225964.6:n.370-3_370-1delinsTC
ENST00000225964.9:c.370-3_370-1delinsTC	ENSP00000225964.5:n.370-3_370-1delinsTC
ENST00000474644.1:n.591-3_591-1delinsTC
ENST00000507689.1:c.424-3_424-1delinsTC	ENSP00000460459.1:n.424-3_424-1delinsTC
NM_000088.3:c.370-3_370-1delinsTC , LRG_1t1:c.370-3_370-1delinsTC	NP_000079.2:n.370-3_370-1delinsTC
XM_005257058.3:c.370-3_370-1delinsTC	XP_005257115.2:n.370-3_370-1delinsTC
XM_005257059.3:c.370-3_370-1delinsTC	XP_005257116.2:n.370-3_370-1delinsTC
XM_011524341.1:c.370-3_370-1delinsTC	XP_011522643.1:n.370-3_370-1delinsTC
XM_005257058.4:c.370-3_370-1delinsTC	XP_005257115.2:n.370-3_370-1delinsTC
XM_005257059.4:c.370-3_370-1delinsTC	XP_005257116.2:n.370-3_370-1delinsTC
NM_000088.4:c.370-3_370-1delinsTC MANE Select	NP_000079.2:n.370-3_370-1delinsTC