Canonical Allele Identifier: CA2263920650

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199332_50199333delinsAG , CM000679.2:g.50199332_50199333delinsAG	GRCh38
NC_000017.10:g.48276693_48276694delinsAG , CM000679.1:g.48276693_48276694delinsAG	GRCh37
NC_000017.9:g.45631692_45631693delinsAG	NCBI36
NG_007400.1:g.7307_7308delinsCT , LRG_1:g.7307_7308delinsCT

Transcript Alleles

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