Canonical Allele Identifier: CA645294070
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426032
ClinVar RCV Id: RCV000488779
dbSNP Id: rs1085307423
MyVariant Identifiers: chr12:g.52314553del (hg19) chr12:g.51920769del (hg38)
PubMed: PMID:20056902 PMID:21651515 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920769del , CM000674.2:g.51920769del GRCh38
NC_000012.11:g.52314553del , CM000674.1:g.52314553del GRCh37
NC_000012.10:g.50600820del NCBI36
NG_009549.1:g.18352del , LRG_543:g.18352del

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1118del ENSP00000446724.2:p.Gly373AlafsTer2
ENST00000551576.6:c.1388del ENSP00000455848.2:p.Gly463AlafsTer2
ENST00000388922.9:c.1388del MANE Select ENSP00000373574.4:p.Gly463AlafsTer2
ENST00000388922.8:c.1388del ENSP00000373574.4:p.Gly463AlafsTer2
ENST00000419526.6:c.866del ENSP00000392492.2:p.Gly289AlafsTer2
ENST00000550683.5:c.1430del ENSP00000447884.1:p.Gly477AlafsTer2
NM_000020.2:c.1388del , LRG_543t1:c.1388del NP_000011.2:p.Gly463AlafsTer2
NM_001077401.1:c.1388del NP_001070869.1:p.Gly463AlafsTer2
XM_005269235.2:c.1388del XP_005269292.1:p.Gly463AlafsTer2
XM_011539008.1:c.1118del XP_011537310.1:p.Gly373AlafsTer2
XM_024449279.1:c.599del XP_024305047.1:p.Gly200AlafsTer2
NM_000020.3:c.1388del MANE Select NP_000011.2:p.Gly463AlafsTer2
NM_001077401.2:c.1388del NP_001070869.1:p.Gly463AlafsTer2
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