Canonical Allele Identifier: CA2576317759

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199349_50199354dup , CM000679.2:g.50199349_50199354dup	GRCh38
NC_000017.10:g.48276710_48276715dup , CM000679.1:g.48276710_48276715dup	GRCh37
NC_000017.9:g.45631709_45631714dup	NCBI36
NG_007400.1:g.7291_7296dup , LRG_1:g.7291_7296dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.370-22_370-17dup MANE Select	ENSP00000225964.6:n.370-22_370-17dup
ENST00000225964.9:c.370-22_370-17dup	ENSP00000225964.5:n.370-22_370-17dup
ENST00000474644.1:n.591-22_591-17dup
ENST00000507689.1:c.424-22_424-17dup	ENSP00000460459.1:n.424-22_424-17dup
NM_000088.3:c.370-22_370-17dup , LRG_1t1:c.370-22_370-17dup	NP_000079.2:n.370-22_370-17dup
XM_005257058.3:c.370-22_370-17dup	XP_005257115.2:n.370-22_370-17dup
XM_005257059.3:c.370-22_370-17dup	XP_005257116.2:n.370-22_370-17dup
XM_011524341.1:c.370-22_370-17dup	XP_011522643.1:n.370-22_370-17dup
XM_005257058.4:c.370-22_370-17dup	XP_005257115.2:n.370-22_370-17dup
XM_005257059.4:c.370-22_370-17dup	XP_005257116.2:n.370-22_370-17dup
NM_000088.4:c.370-22_370-17dup MANE Select	NP_000079.2:n.370-22_370-17dup