Canonical Allele Identifier: CA2809757339

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192788_50192790del , CM000679.2:g.50192788_50192790del	GRCh38
NC_000017.10:g.48270149_48270151del , CM000679.1:g.48270149_48270151del	GRCh37
NC_000017.9:g.45625148_45625150del	NCBI36
NG_007400.1:g.13850_13852del , LRG_1:g.13850_13852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1875+7_1875+9del MANE Select	ENSP00000225964.6:n.1875+7_1875+9del
ENST00000225964.9:c.1875+7_1875+9del	ENSP00000225964.5:n.1875+7_1875+9del
ENST00000476387.1:n.224+7_224+9del
NM_000088.3:c.1875+7_1875+9del , LRG_1t1:c.1875+7_1875+9del	NP_000079.2:n.1875+7_1875+9del
XM_005257058.3:c.1875+7_1875+9del	XP_005257115.2:n.1875+7_1875+9del
XM_005257059.3:c.958-97_958-95del	XP_005257116.2:n.958-97_958-95del
XM_011524341.1:c.1677+7_1677+9del	XP_011522643.1:n.1677+7_1677+9del
XM_005257058.4:c.1875+7_1875+9del	XP_005257115.2:n.1875+7_1875+9del
XM_005257059.4:c.958-97_958-95del	XP_005257116.2:n.958-97_958-95del
NM_000088.4:c.1875+7_1875+9del MANE Select	NP_000079.2:n.1875+7_1875+9del