Canonical Allele Identifier: CA2036266970

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913176_51913177delinsCG , CM000674.2:g.51913176_51913177delinsCG	GRCh38
NC_000012.11:g.52306960_52306961delinsCG , CM000674.1:g.52306960_52306961delinsCG	GRCh37
NC_000012.10:g.50593227_50593228delinsCG	NCBI36
NG_009549.1:g.10759_10760delinsCG , LRG_543:g.10759_10760delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.181_182delinsCG	ENSP00000446724.2:p.Arg61=
ENST00000551576.6:c.139_140delinsCG	ENSP00000455848.2:p.Arg47=
ENST00000552678.2:c.139_140delinsCG	ENSP00000457394.2:p.Arg47=
ENST00000388922.9:c.139_140delinsCG MANE Select	ENSP00000373574.4:p.Arg47=
ENST00000388922.8:c.139_140delinsCG	ENSP00000373574.4:p.Arg47=
ENST00000419526.6:c.103+641_103+642delinsCG	ENSP00000392492.2:n.103+641_103+642delinsCG
ENST00000547400.5:c.181_182delinsCG	ENSP00000446724.1:p.Arg61=
ENST00000550683.5:c.181_182delinsCG	ENSP00000447884.1:p.Arg61=
ENST00000551576.5:c.139_140delinsCG	ENSP00000455848.1:p.Arg47=
NM_000020.2:c.139_140delinsCG , LRG_543t1:c.139_140delinsCG	NP_000011.2:p.Arg47=
NM_001077401.1:c.139_140delinsCG	NP_001070869.1:p.Arg47=
XM_005269235.2:c.139_140delinsCG	XP_005269292.1:p.Arg47=
XM_011539008.1:c.181_182delinsCG	XP_011537310.1:p.Arg61=
NM_000020.3:c.139_140delinsCG MANE Select	NP_000011.2:p.Arg47=
NM_001077401.2:c.139_140delinsCG	NP_001070869.1:p.Arg47=