Canonical Allele Identifier: CA658797915

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 503681
• ClinVar RCV Id: RCV002395541 ; RCV003509577
• dbSNP Id: rs1555152455
• MyVariant Identifiers: chr12:g.52306960_52306961insCG (hg19) ; chr12:g.51913176_51913177insCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913176_51913177insCG , CM000674.2:g.51913176_51913177insCG	GRCh38
NC_000012.11:g.52306960_52306961insCG , CM000674.1:g.52306960_52306961insCG	GRCh37
NC_000012.10:g.50593227_50593228insCG	NCBI36
NG_009549.1:g.10759_10760insCG , LRG_543:g.10759_10760insCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.181_182insCG	ENSP00000446724.2:p.Arg61ProfsTer8
ENST00000551576.6:c.139_140insCG	ENSP00000455848.2:p.Arg47ProfsTer8
ENST00000552678.2:c.139_140insCG	ENSP00000457394.2:p.Arg47ProfsTer8
ENST00000388922.9:c.139_140insCG MANE Select	ENSP00000373574.4:p.Arg47ProfsTer8
ENST00000388922.8:c.139_140insCG	ENSP00000373574.4:p.Arg47ProfsTer8
ENST00000419526.6:c.103+641_103+642insCG	ENSP00000392492.2:n.103+641_103+642insCG
ENST00000547400.5:c.181_182insCG	ENSP00000446724.1:p.Arg61ProfsTer8
ENST00000550683.5:c.181_182insCG	ENSP00000447884.1:p.Arg61ProfsTer8
ENST00000551576.5:c.139_140insCG	ENSP00000455848.1:p.Arg47ProfsTer8
NM_000020.2:c.139_140insCG , LRG_543t1:c.139_140insCG	NP_000011.2:p.Arg47ProfsTer8
NM_001077401.1:c.139_140insCG	NP_001070869.1:p.Arg47ProfsTer8
XM_005269235.2:c.139_140insCG	XP_005269292.1:p.Arg47ProfsTer8
XM_011539008.1:c.181_182insCG	XP_011537310.1:p.Arg61ProfsTer8
NM_000020.3:c.139_140insCG MANE Select	NP_000011.2:p.Arg47ProfsTer8
NM_001077401.2:c.139_140insCG	NP_001070869.1:p.Arg47ProfsTer8