Canonical Allele Identifier: CA2809757330

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192770_50192773del , CM000679.2:g.50192770_50192773del	GRCh38
NC_000017.10:g.48270131_48270134del , CM000679.1:g.48270131_48270134del	GRCh37
NC_000017.9:g.45625130_45625133del	NCBI36
NG_007400.1:g.13867_13870del , LRG_1:g.13867_13870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1875+24_1875+27del MANE Select	ENSP00000225964.6:n.1875+24_1875+27del
ENST00000225964.9:c.1875+24_1875+27del	ENSP00000225964.5:n.1875+24_1875+27del
ENST00000476387.1:n.224+24_224+27del
NM_000088.3:c.1875+24_1875+27del , LRG_1t1:c.1875+24_1875+27del	NP_000079.2:n.1875+24_1875+27del
XM_005257058.3:c.1875+24_1875+27del	XP_005257115.2:n.1875+24_1875+27del
XM_005257059.3:c.958-80_958-77del	XP_005257116.2:n.958-80_958-77del
XM_011524341.1:c.1677+24_1677+27del	XP_011522643.1:n.1677+24_1677+27del
XM_005257058.4:c.1875+24_1875+27del	XP_005257115.2:n.1875+24_1875+27del
XM_005257059.4:c.958-80_958-77del	XP_005257116.2:n.958-80_958-77del
NM_000088.4:c.1875+24_1875+27del MANE Select	NP_000079.2:n.1875+24_1875+27del