Canonical Allele Identifier: CA2576317472

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192539del , CM000679.2:g.50192539del	GRCh38
NC_000017.10:g.48269900del , CM000679.1:g.48269900del	GRCh37
NC_000017.9:g.45624899del	NCBI36
NG_007400.1:g.14103del , LRG_1:g.14103del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1930-9del MANE Select	ENSP00000225964.6:n.1930-9del
ENST00000225964.9:c.1930-9del	ENSP00000225964.5:n.1930-9del
ENST00000476387.1:n.279-9del
NM_000088.3:c.1930-9del , LRG_1t1:c.1930-9del	NP_000079.2:n.1930-9del
XM_005257058.3:c.1930-9del	XP_005257115.2:n.1930-9del
XM_005257059.3:c.1012-9del	XP_005257116.2:n.1012-9del
XM_011524341.1:c.1732-9del	XP_011522643.1:n.1732-9del
XM_005257058.4:c.1930-9del	XP_005257115.2:n.1930-9del
XM_005257059.4:c.1012-9del	XP_005257116.2:n.1012-9del
NM_000088.4:c.1930-9del MANE Select	NP_000079.2:n.1930-9del