Canonical Allele Identifier: CA913190986

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 617964
• ClinVar RCV Id: RCV000755790
• dbSNP Id: rs1565594157

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915322del , CM000674.2:g.51915322del	GRCh38
NC_000012.11:g.52309106del , CM000674.1:g.52309106del	GRCh37
NC_000012.10:g.50595373del	NCBI36
NG_009549.1:g.12905del , LRG_543:g.12905del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.600del	ENSP00000446724.2:p.Arg201AspfsTer10
ENST00000551576.6:c.870del	ENSP00000455848.2:p.Arg291AspfsTer10
ENST00000552678.2:c.870del	ENSP00000457394.2:p.Arg291AspfsTer10
ENST00000388922.9:c.870del MANE Select	ENSP00000373574.4:p.Arg291AspfsTer10
ENST00000388922.8:c.870del	ENSP00000373574.4:p.Arg291AspfsTer10
ENST00000419526.6:c.348del	ENSP00000392492.2:p.Arg117AspfsTer10
ENST00000550683.5:c.912del	ENSP00000447884.1:p.Arg305AspfsTer10
NM_000020.2:c.870del , LRG_543t1:c.870del	NP_000011.2:p.Arg291AspfsTer10
NM_001077401.1:c.870del	NP_001070869.1:p.Arg291AspfsTer10
XM_005269235.2:c.870del	XP_005269292.1:p.Arg291AspfsTer10
XM_011539008.1:c.600del	XP_011537310.1:p.Arg201AspfsTer10
XM_024449279.1:c.81del	XP_024305047.1:p.Arg28AspfsTer10
NM_000020.3:c.870del MANE Select	NP_000011.2:p.Arg291AspfsTer10
NM_001077401.2:c.870del	NP_001070869.1:p.Arg291AspfsTer10