Canonical Allele Identifier: CA2695226631

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192990_50192993del , CM000679.2:g.50192990_50192993del	GRCh38
NC_000017.10:g.48270351_48270354del , CM000679.1:g.48270351_48270354del	GRCh37
NC_000017.9:g.45625350_45625353del	NCBI36
NG_007400.1:g.13650_13653del , LRG_1:g.13650_13653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1821+4_1821+7del MANE Select	ENSP00000225964.6:n.1821+4_1821+7del
ENST00000225964.9:c.1821+4_1821+7del	ENSP00000225964.5:n.1821+4_1821+7del
ENST00000476387.1:n.170+4_170+7del
NM_000088.3:c.1821+4_1821+7del , LRG_1t1:c.1821+4_1821+7del	NP_000079.2:n.1821+4_1821+7del
XM_005257058.3:c.1821+4_1821+7del	XP_005257115.2:n.1821+4_1821+7del
XM_005257059.3:c.958-297_958-294del	XP_005257116.2:n.958-297_958-294del
XM_011524341.1:c.1623+4_1623+7del	XP_011522643.1:n.1623+4_1623+7del
XM_005257058.4:c.1821+4_1821+7del	XP_005257115.2:n.1821+4_1821+7del
XM_005257059.4:c.958-297_958-294del	XP_005257116.2:n.958-297_958-294del
NM_000088.4:c.1821+4_1821+7del MANE Select	NP_000079.2:n.1821+4_1821+7del