Canonical Allele Identifier: CA1139665715

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199297dup , CM000679.2:g.50199297dup	GRCh38
NC_000017.10:g.48276658dup , CM000679.1:g.48276658dup	GRCh37
NC_000017.9:g.45631657dup	NCBI36
NG_007400.1:g.7343dup , LRG_1:g.7343dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.400dup MANE Select	ENSP00000225964.6:p.Ile134AsnfsTer?
ENST00000225964.9:c.400dup	ENSP00000225964.5:p.Ile134AsnfsTer?
ENST00000474644.1:n.621dup
ENST00000507689.1:c.454dup	ENSP00000460459.1:p.Ile152AsnfsTer?
NM_000088.3:c.400dup , LRG_1t1:c.400dup	NP_000079.2:p.Ile134AsnfsTer?
XM_005257058.3:c.400dup	XP_005257115.2:p.Ile134AsnfsTer?
XM_005257059.3:c.400dup	XP_005257116.2:p.Ile134AsnfsTer?
XM_011524341.1:c.400dup	XP_011522643.1:p.Ile134AsnfsTer?
XM_005257058.4:c.400dup	XP_005257115.2:p.Ile134AsnfsTer?
XM_005257059.4:c.400dup	XP_005257116.2:p.Ile134AsnfsTer?
NM_000088.4:c.400dup MANE Select	NP_000079.2:p.Ile134AsnfsTer?