Canonical Allele Identifier: CA2580086437

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1779775
• ClinVar RCV Id: RCV002401810

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913214_51913217dup , CM000674.2:g.51913214_51913217dup	GRCh38
NC_000012.11:g.52306998_52307001dup , CM000674.1:g.52306998_52307001dup	GRCh37
NC_000012.10:g.50593265_50593268dup	NCBI36
NG_009549.1:g.10797_10800dup , LRG_543:g.10797_10800dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.219_222dup	ENSP00000446724.2:p.Arg75GlyfsTer?
ENST00000551576.6:c.177_180dup	ENSP00000455848.2:p.Arg61GlyfsTer?
ENST00000552678.2:c.177_180dup	ENSP00000457394.2:p.Arg61GlyfsTer?
ENST00000388922.9:c.177_180dup MANE Select	ENSP00000373574.4:p.Arg61GlyfsTer?
ENST00000388922.8:c.177_180dup	ENSP00000373574.4:p.Arg61GlyfsTer?
ENST00000419526.6:c.103+679_103+682dup	ENSP00000392492.2:n.103+679_103+682dup
ENST00000547400.5:c.219_222dup	ENSP00000446724.1:p.Arg75GlyfsTer?
ENST00000550683.5:c.219_222dup	ENSP00000447884.1:p.Arg75GlyfsTer?
ENST00000551576.5:c.177_180dup	ENSP00000455848.1:p.Arg61GlyfsTer?
NM_000020.2:c.177_180dup , LRG_543t1:c.177_180dup	NP_000011.2:p.Arg61GlyfsTer?
NM_001077401.1:c.177_180dup	NP_001070869.1:p.Arg61GlyfsTer?
XM_005269235.2:c.177_180dup	XP_005269292.1:p.Arg61GlyfsTer?
XM_011539008.1:c.219_222dup	XP_011537310.1:p.Arg75GlyfsTer?
NM_000020.3:c.177_180dup MANE Select	NP_000011.2:p.Arg61GlyfsTer?
NM_001077401.2:c.177_180dup	NP_001070869.1:p.Arg61GlyfsTer?