Canonical Allele Identifier: CA915948523

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 645621
• ClinVar RCV Id: RCV000799743 ; RCV002370110
• dbSNP Id: rs1592224087

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915324_51915325del , CM000674.2:g.51915324_51915325del	GRCh38
NC_000012.11:g.52309108_52309109del , CM000674.1:g.52309108_52309109del	GRCh37
NC_000012.10:g.50595375_50595376del	NCBI36
NG_009549.1:g.12907_12908del , LRG_543:g.12907_12908del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.602_603del	ENSP00000446724.2:p.Arg201ThrfsTer?
ENST00000551576.6:c.872_873del	ENSP00000455848.2:p.Arg291ThrfsTer?
ENST00000552678.2:c.872_873del	ENSP00000457394.2:p.Arg291ThrfsTer?
ENST00000388922.9:c.872_873del MANE Select	ENSP00000373574.4:p.Arg291ThrfsTer?
ENST00000388922.8:c.872_873del	ENSP00000373574.4:p.Arg291ThrfsTer?
ENST00000419526.6:c.350_351del	ENSP00000392492.2:p.Arg117ThrfsTer?
ENST00000550683.5:c.914_915del	ENSP00000447884.1:p.Arg305ThrfsTer?
NM_000020.2:c.872_873del , LRG_543t1:c.872_873del	NP_000011.2:p.Arg291ThrfsTer?
NM_001077401.1:c.872_873del	NP_001070869.1:p.Arg291ThrfsTer?
XM_005269235.2:c.872_873del	XP_005269292.1:p.Arg291ThrfsTer?
XM_011539008.1:c.602_603del	XP_011537310.1:p.Arg201ThrfsTer?
XM_024449279.1:c.83_84del	XP_024305047.1:p.Arg28ThrfsTer?
NM_000020.3:c.872_873del MANE Select	NP_000011.2:p.Arg291ThrfsTer?
NM_001077401.2:c.872_873del	NP_001070869.1:p.Arg291ThrfsTer?