Canonical Allele Identifier: CA2695216661

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913118dup , CM000674.2:g.51913118dup	GRCh38
NC_000012.11:g.52306902dup , CM000674.1:g.52306902dup	GRCh37
NC_000012.10:g.50593169dup	NCBI36
NG_009549.1:g.10701dup , LRG_543:g.10701dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.123dup	ENSP00000446724.2:p.Arg42SerfsTer10
ENST00000551576.6:c.81dup	ENSP00000455848.2:p.Arg28SerfsTer10
ENST00000552678.2:c.81dup	ENSP00000457394.2:p.Arg28SerfsTer10
ENST00000388922.9:c.81dup MANE Select	ENSP00000373574.4:p.Arg28SerfsTer10
ENST00000388922.8:c.81dup	ENSP00000373574.4:p.Arg28SerfsTer10
ENST00000419526.6:c.103+583dup	ENSP00000392492.2:n.103+583dup
ENST00000547400.5:c.123dup	ENSP00000446724.1:p.Arg42SerfsTer10
ENST00000550683.5:c.123dup	ENSP00000447884.1:p.Arg42SerfsTer10
ENST00000551576.5:c.81dup	ENSP00000455848.1:p.Arg28SerfsTer10
NM_000020.2:c.81dup , LRG_543t1:c.81dup	NP_000011.2:p.Arg28SerfsTer10
NM_001077401.1:c.81dup	NP_001070869.1:p.Arg28SerfsTer10
XM_005269235.2:c.81dup	XP_005269292.1:p.Arg28SerfsTer10
XM_011539008.1:c.123dup	XP_011537310.1:p.Arg42SerfsTer10
NM_000020.3:c.81dup MANE Select	NP_000011.2:p.Arg28SerfsTer10
NM_001077401.2:c.81dup	NP_001070869.1:p.Arg28SerfsTer10