Canonical Allele Identifier: CA645294072
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426038
ClinVar RCV Id: RCV000488689
dbSNP Id: rs1085307427

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920831delinsTG , CM000674.2:g.51920831delinsTG GRCh38
NC_000012.11:g.52314615delinsTG , CM000674.1:g.52314615delinsTG GRCh37
NC_000012.10:g.50600882delinsTG NCBI36
NG_009549.1:g.18414delinsTG , LRG_543:g.18414delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1450delinsTG MANE Select ENSP00000373574.4:p.Arg484TrpfsTer10
ENST00000388922.8:c.1450delinsTG ENSP00000373574.4:p.Arg484TrpfsTer10
ENST00000419526.6:c.928delinsTG ENSP00000392492.2:p.Arg310TrpfsTer10
ENST00000550683.5:c.1492delinsTG ENSP00000447884.1:p.Arg498TrpfsTer10
NM_000020.2:c.1450delinsTG , LRG_543t1:c.1450delinsTG NP_000011.2:p.Arg484TrpfsTer10
NM_001077401.1:c.1450delinsTG NP_001070869.1:p.Arg484TrpfsTer10
XM_005269235.2:c.1450delinsTG XP_005269292.1:p.Arg484TrpfsTer10
XM_011539008.1:c.1180delinsTG XP_011537310.1:p.Arg394TrpfsTer10
XM_024449279.1:c.661delinsTG XP_024305047.1:p.Arg221TrpfsTer10
NM_000020.3:c.1450delinsTG MANE Select NP_000011.2:p.Arg484TrpfsTer10
NM_001077401.2:c.1450delinsTG NP_001070869.1:p.Arg484TrpfsTer10