Canonical Allele Identifier: CA6573187
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 309444

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920938del , CM000674.2:g.51920938del GRCh38
NC_000012.11:g.52314722del , CM000674.1:g.52314722del GRCh37
NC_000012.10:g.50600989del NCBI36
NG_009549.1:g.18521del , LRG_543:g.18521del

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.*45del MANE Select ENSP00000373574.4:p.=
ENST00000388922.8:c.*45del ENSP00000373574.4:p.=
ENST00000419526.6:c.*45del ENSP00000392492.2:p.=
ENST00000550683.5:c.*45del ENSP00000447884.1:p.=
NM_000020.2:c.*45del , LRG_543t1:c.*45del NP_000011.2:p.=
NM_001077401.1:c.*45del NP_001070869.1:p.=
XM_005269235.2:c.*45del XP_005269292.1:p.=
XM_011539008.1:c.*45del XP_011537310.1:p.=
XM_024449279.1:c.*45del XP_024305047.1:p.=
NM_000020.3:c.*45del MANE Select NP_000011.2:p.=
NM_001077401.2:c.*45del NP_001070869.1:p.=