Canonical Allele Identifier: CA2842605652

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914003dup , CM000674.2:g.51914003dup	GRCh38
NC_000012.11:g.52307787dup , CM000674.1:g.52307787dup	GRCh37
NC_000012.10:g.50594054dup	NCBI36
NG_009549.1:g.11586dup , LRG_543:g.11586dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-436dup	ENSP00000446724.2:n.356-436dup
ENST00000551576.6:c.555dup	ENSP00000455848.2:p.Ser186GlufsTer?
ENST00000552678.2:c.555dup	ENSP00000457394.2:p.Ser186GlufsTer?
ENST00000388922.9:c.555dup MANE Select	ENSP00000373574.4:p.Ser186GlufsTer?
ENST00000388922.8:c.555dup	ENSP00000373574.4:p.Ser186GlufsTer?
ENST00000419526.6:c.104-436dup	ENSP00000392492.2:n.104-436dup
ENST00000547400.5:c.356-436dup	ENSP00000446724.1:n.356-436dup
ENST00000550683.5:c.597dup	ENSP00000447884.1:p.Ser200GlufsTer?
NM_000020.2:c.555dup , LRG_543t1:c.555dup	NP_000011.2:p.Ser186GlufsTer?
NM_001077401.1:c.555dup	NP_001070869.1:p.Ser186GlufsTer?
XM_005269235.2:c.555dup	XP_005269292.1:p.Ser186GlufsTer?
XM_011539008.1:c.356-436dup	XP_011537310.1:n.356-436dup
XM_024449279.1:c.-165+233dup	XP_024305047.1:n.-165+233dup
NM_000020.3:c.555dup MANE Select	NP_000011.2:p.Ser186GlufsTer?
NM_001077401.2:c.555dup	NP_001070869.1:p.Ser186GlufsTer?