Canonical Allele Identifier: CA2809757320

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192738_50192751del , CM000679.2:g.50192738_50192751del	GRCh38
NC_000017.10:g.48270099_48270112del , CM000679.1:g.48270099_48270112del	GRCh37
NC_000017.9:g.45625098_45625111del	NCBI36
NG_007400.1:g.13890_13903del , LRG_1:g.13890_13903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1875+47_1876-44del MANE Select	ENSP00000225964.6:n.1875+47_1876-44del
ENST00000225964.9:c.1875+47_1876-44del	ENSP00000225964.5:n.1875+47_1876-44del
ENST00000476387.1:n.224+47_225-44del
NM_000088.3:c.1875+47_1876-44del , LRG_1t1:c.1875+47_1876-44del	NP_000079.2:n.1875+47_1876-44del
XM_005257058.3:c.1875+47_1876-44del	XP_005257115.2:n.1875+47_1876-44del
XM_005257059.3:c.958-57_958-44del	XP_005257116.2:n.958-57_958-44del
XM_011524341.1:c.1677+47_1678-44del	XP_011522643.1:n.1677+47_1678-44del
XM_005257058.4:c.1875+47_1876-44del	XP_005257115.2:n.1875+47_1876-44del
XM_005257059.4:c.958-57_958-44del	XP_005257116.2:n.958-57_958-44del
NM_000088.4:c.1875+47_1876-44del MANE Select	NP_000079.2:n.1875+47_1876-44del