Canonical Allele Identifier: CA645294071
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426033
ClinVar RCV Id: RCV000488490
dbSNP Id: rs1085307424
MyVariant Identifiers: chr12:g.52314555del (hg19) chr12:g.51920771del (hg38)
PubMed: PMID:21651515 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920771del , CM000674.2:g.51920771del GRCh38
NC_000012.11:g.52314555del , CM000674.1:g.52314555del GRCh37
NC_000012.10:g.50600822del NCBI36
NG_009549.1:g.18354del , LRG_543:g.18354del

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1120del ENSP00000446724.2:p.Leu374Ter
ENST00000551576.6:c.1390del ENSP00000455848.2:p.Leu464Ter
ENST00000388922.9:c.1390del MANE Select ENSP00000373574.4:p.Leu464Ter
ENST00000388922.8:c.1390del ENSP00000373574.4:p.Leu464Ter
ENST00000419526.6:c.868del ENSP00000392492.2:p.Leu290Ter
ENST00000550683.5:c.1432del ENSP00000447884.1:p.Leu478Ter
NM_000020.2:c.1390del , LRG_543t1:c.1390del NP_000011.2:p.Leu464Ter
NM_001077401.1:c.1390del NP_001070869.1:p.Leu464Ter
XM_005269235.2:c.1390del XP_005269292.1:p.Leu464Ter
XM_011539008.1:c.1120del XP_011537310.1:p.Leu374Ter
XM_024449279.1:c.601del XP_024305047.1:p.Leu201Ter
NM_000020.3:c.1390del MANE Select NP_000011.2:p.Leu464Ter
NM_001077401.2:c.1390del NP_001070869.1:p.Leu464Ter
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