Canonical Allele Identifier: CA2695216742

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915305dup , CM000674.2:g.51915305dup	GRCh38
NC_000012.11:g.52309089dup , CM000674.1:g.52309089dup	GRCh37
NC_000012.10:g.50595356dup	NCBI36
NG_009549.1:g.12888dup , LRG_543:g.12888dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.583dup	ENSP00000446724.2:p.Leu195ProfsTer?
ENST00000551576.6:c.853dup	ENSP00000455848.2:p.Leu285ProfsTer?
ENST00000552678.2:c.853dup	ENSP00000457394.2:p.Leu285ProfsTer?
ENST00000388922.9:c.853dup MANE Select	ENSP00000373574.4:p.Leu285ProfsTer?
ENST00000388922.8:c.853dup	ENSP00000373574.4:p.Leu285ProfsTer?
ENST00000419526.6:c.331dup	ENSP00000392492.2:p.Leu111ProfsTer?
ENST00000550683.5:c.895dup	ENSP00000447884.1:p.Leu299ProfsTer?
NM_000020.2:c.853dup , LRG_543t1:c.853dup	NP_000011.2:p.Leu285ProfsTer?
NM_001077401.1:c.853dup	NP_001070869.1:p.Leu285ProfsTer?
XM_005269235.2:c.853dup	XP_005269292.1:p.Leu285ProfsTer?
XM_011539008.1:c.583dup	XP_011537310.1:p.Leu195ProfsTer?
XM_024449279.1:c.64dup	XP_024305047.1:p.Leu22ProfsTer?
NM_000020.3:c.853dup MANE Select	NP_000011.2:p.Leu285ProfsTer?
NM_001077401.2:c.853dup	NP_001070869.1:p.Leu285ProfsTer?