Canonical Allele Identifier: CA2809757321

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192748_50192752del , CM000679.2:g.50192748_50192752del	GRCh38
NC_000017.10:g.48270109_48270113del , CM000679.1:g.48270109_48270113del	GRCh37
NC_000017.9:g.45625108_45625112del	NCBI36
NG_007400.1:g.13888_13892del , LRG_1:g.13888_13892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1875+45_1875+49del MANE Select	ENSP00000225964.6:n.1875+45_1875+49del
ENST00000225964.9:c.1875+45_1875+49del	ENSP00000225964.5:n.1875+45_1875+49del
ENST00000476387.1:n.224+45_224+49del
NM_000088.3:c.1875+45_1875+49del , LRG_1t1:c.1875+45_1875+49del	NP_000079.2:n.1875+45_1875+49del
XM_005257058.3:c.1875+45_1875+49del	XP_005257115.2:n.1875+45_1875+49del
XM_005257059.3:c.958-59_958-55del	XP_005257116.2:n.958-59_958-55del
XM_011524341.1:c.1677+45_1677+49del	XP_011522643.1:n.1677+45_1677+49del
XM_005257058.4:c.1875+45_1875+49del	XP_005257115.2:n.1875+45_1875+49del
XM_005257059.4:c.958-59_958-55del	XP_005257116.2:n.958-59_958-55del
NM_000088.4:c.1875+45_1875+49del MANE Select	NP_000079.2:n.1875+45_1875+49del