Canonical Allele Identifier: CA2263917563

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192738_50192739delinsAG , CM000679.2:g.50192738_50192739delinsAG	GRCh38
NC_000017.10:g.48270099_48270100delinsAG , CM000679.1:g.48270099_48270100delinsAG	GRCh37
NC_000017.9:g.45625098_45625099delinsAG	NCBI36
NG_007400.1:g.13901_13902delinsCT , LRG_1:g.13901_13902delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1876-46_1876-45delinsCT MANE Select	ENSP00000225964.6:n.1876-46_1876-45delinsCT
ENST00000225964.9:c.1876-46_1876-45delinsCT	ENSP00000225964.5:n.1876-46_1876-45delinsCT
ENST00000476387.1:n.225-46_225-45delinsCT
NM_000088.3:c.1876-46_1876-45delinsCT , LRG_1t1:c.1876-46_1876-45delinsCT	NP_000079.2:n.1876-46_1876-45delinsCT
XM_005257058.3:c.1876-46_1876-45delinsCT	XP_005257115.2:n.1876-46_1876-45delinsCT
XM_005257059.3:c.958-46_958-45delinsCT	XP_005257116.2:n.958-46_958-45delinsCT
XM_011524341.1:c.1678-46_1678-45delinsCT	XP_011522643.1:n.1678-46_1678-45delinsCT
XM_005257058.4:c.1876-46_1876-45delinsCT	XP_005257115.2:n.1876-46_1876-45delinsCT
XM_005257059.4:c.958-46_958-45delinsCT	XP_005257116.2:n.958-46_958-45delinsCT
NM_000088.4:c.1876-46_1876-45delinsCT MANE Select	NP_000079.2:n.1876-46_1876-45delinsCT