Canonical Allele Identifier: CA16614159
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411311
ClinVar RCV Id: RCV002374809
dbSNP Id: rs1060503245
MyVariant Identifiers: chr12:g.52309125del (hg19) chr12:g.51915341del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51915341del , CM000674.2:g.51915341del GRCh38
NC_000012.11:g.52309125del , CM000674.1:g.52309125del GRCh37
NC_000012.10:g.50595392del NCBI36
NG_009549.1:g.12924del , LRG_543:g.12924del

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.619del ENSP00000446724.2:p.His207IlefsTer4
ENST00000551576.6:c.889del ENSP00000455848.2:p.His297IlefsTer4
ENST00000552678.2:c.889del ENSP00000457394.2:p.His297IlefsTer4
ENST00000388922.9:c.889del MANE Select ENSP00000373574.4:p.His297IlefsTer4
ENST00000388922.8:c.889del ENSP00000373574.4:p.His297IlefsTer4
ENST00000419526.6:c.367del ENSP00000392492.2:p.His123IlefsTer4
ENST00000550683.5:c.931del ENSP00000447884.1:p.His311IlefsTer4
NM_000020.2:c.889del , LRG_543t1:c.889del NP_000011.2:p.His297IlefsTer4
NM_001077401.1:c.889del NP_001070869.1:p.His297IlefsTer4
XM_005269235.2:c.889del XP_005269292.1:p.His297IlefsTer4
XM_011539008.1:c.619del XP_011537310.1:p.His207IlefsTer4
XM_024449279.1:c.100del XP_024305047.1:p.His34IlefsTer4
NM_000020.3:c.889del MANE Select NP_000011.2:p.His297IlefsTer4
NM_001077401.2:c.889del NP_001070869.1:p.His297IlefsTer4
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