Canonical Allele Identifier: CA2036241463
Gene: ACVRL1 HGNC NCBI

Linked Data

dbSNP Id: rs1940950098
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920588del , CM000674.2:g.51920588del GRCh38
NC_000012.11:g.52314372del , CM000674.1:g.52314372del GRCh37
NC_000012.10:g.50600639del NCBI36
NG_009549.1:g.18171del , LRG_543:g.18171del

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.1108-171del ENSP00000446724.2:n.1108-171del
ENST00000551576.6:c.1378-171del ENSP00000455848.2:n.1378-171del
ENST00000388922.9:c.1378-171del MANE Select ENSP00000373574.4:n.1378-171del
ENST00000388922.8:c.1378-171del ENSP00000373574.4:n.1378-171del
ENST00000419526.6:c.856-171del ENSP00000392492.2:n.856-171del
ENST00000550683.5:c.1420-171del ENSP00000447884.1:n.1420-171del
NM_000020.2:c.1378-171del , LRG_543t1:c.1378-171del NP_000011.2:n.1378-171del
NM_001077401.1:c.1378-171del NP_001070869.1:n.1378-171del
XM_005269235.2:c.1378-171del XP_005269292.1:n.1378-171del
XM_011539008.1:c.1108-171del XP_011537310.1:n.1108-171del
XM_024449279.1:c.589-171del XP_024305047.1:n.589-171del
NM_000020.3:c.1378-171del MANE Select NP_000011.2:n.1378-171del
NM_001077401.2:c.1378-171del NP_001070869.1:n.1378-171del
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