Canonical Allele Identifier: CA645293883
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426009
ClinVar RCV Id: RCV000488723
dbSNP Id: rs1085307404
MyVariant Identifiers: chr12:g.52306295del (hg19) chr12:g.51912511del (hg38)
PubMed: PMID:11484689 PMID:20056902 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51912511del , CM000674.2:g.51912511del GRCh38
NC_000012.11:g.52306295del , CM000674.1:g.52306295del GRCh37
NC_000012.10:g.50592562del NCBI36
NG_009549.1:g.10094del , LRG_543:g.10094del

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.79del ENSP00000446724.2:p.Leu27CysfsTer2
ENST00000551576.6:c.37del ENSP00000455848.2:p.Leu13CysfsTer2
ENST00000552678.2:c.37del ENSP00000457394.2:p.Leu13CysfsTer2
ENST00000388922.9:c.37del MANE Select ENSP00000373574.4:p.Leu13CysfsTer2
ENST00000388922.8:c.37del ENSP00000373574.4:p.Leu13CysfsTer2
ENST00000419526.6:c.79del ENSP00000392492.2:p.Leu27CysfsTer2
ENST00000547400.5:c.79del ENSP00000446724.1:p.Leu27CysfsTer2
ENST00000550683.5:c.79del ENSP00000447884.1:p.Leu27CysfsTer2
ENST00000551576.5:c.37del ENSP00000455848.1:p.Leu13CysfsTer2
NM_000020.2:c.37del , LRG_543t1:c.37del NP_000011.2:p.Leu13CysfsTer2
NM_001077401.1:c.37del NP_001070869.1:p.Leu13CysfsTer2
XM_005269235.2:c.37del XP_005269292.1:p.Leu13CysfsTer2
XM_011539008.1:c.79del XP_011537310.1:p.Leu27CysfsTer2
NM_000020.3:c.37del MANE Select NP_000011.2:p.Leu13CysfsTer2
NM_001077401.2:c.37del NP_001070869.1:p.Leu13CysfsTer2
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