Canonical Allele Identifier: CA16619569
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422888
ClinVar RCV Id: RCV000481312
dbSNP Id: rs1064796070

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915368del , CM000674.2:g.51915368del GRCh38
NC_000012.11:g.52309152del , CM000674.1:g.52309152del GRCh37
NC_000012.10:g.50595419del NCBI36
NG_009549.1:g.12951del , LRG_543:g.12951del

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.916del MANE Select ENSP00000373574.4:p.Ala306ArgfsTer?
ENST00000388922.8:c.916del ENSP00000373574.4:p.Ala306ArgfsTer?
ENST00000419526.6:c.394del ENSP00000392492.2:p.Ala132ArgfsTer?
ENST00000550683.5:c.958del ENSP00000447884.1:p.Ala320ArgfsTer?
NM_000020.2:c.916del , LRG_543t1:c.916del NP_000011.2:p.Ala306ArgfsTer?
NM_001077401.1:c.916del NP_001070869.1:p.Ala306ArgfsTer?
XM_005269235.2:c.916del XP_005269292.1:p.Ala306ArgfsTer?
XM_011539008.1:c.646del XP_011537310.1:p.Ala216ArgfsTer?
XM_024449279.1:c.127del XP_024305047.1:p.Ala43ArgfsTer?
NM_000020.3:c.916del MANE Select NP_000011.2:p.Ala306ArgfsTer?
NM_001077401.2:c.916del NP_001070869.1:p.Ala306ArgfsTer?