Canonical Allele Identifier: CA2263917537

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192694_50192695delinsCT , CM000679.2:g.50192694_50192695delinsCT	GRCh38
NC_000017.10:g.48270055_48270056delinsCT , CM000679.1:g.48270055_48270056delinsCT	GRCh37
NC_000017.9:g.45625054_45625055delinsCT	NCBI36
NG_007400.1:g.13945_13946delinsAG , LRG_1:g.13945_13946delinsAG

Transcript Alleles

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