Canonical Allele Identifier: CA2036241583
Gene: ACVRL1 HGNC NCBI

Linked Data

dbSNP Id: rs1192710142

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920712_51920739del , CM000674.2:g.51920712_51920739del GRCh38
NC_000012.11:g.52314496_52314523del , CM000674.1:g.52314496_52314523del GRCh37
NC_000012.10:g.50600763_50600790del NCBI36
NG_009549.1:g.18295_18322del , LRG_543:g.18295_18322del

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1378-47_1378-20del MANE Select ENSP00000373574.4:n.1378-47_1378-20del
ENST00000388922.8:c.1378-47_1378-20del ENSP00000373574.4:n.1378-47_1378-20del
ENST00000419526.6:c.856-47_856-20del ENSP00000392492.2:n.856-47_856-20del
ENST00000550683.5:c.1420-47_1420-20del ENSP00000447884.1:n.1420-47_1420-20del
NM_000020.2:c.1378-47_1378-20del , LRG_543t1:c.1378-47_1378-20del NP_000011.2:n.1378-47_1378-20del
NM_001077401.1:c.1378-47_1378-20del NP_001070869.1:n.1378-47_1378-20del
XM_005269235.2:c.1378-47_1378-20del XP_005269292.1:n.1378-47_1378-20del
XM_011539008.1:c.1108-47_1108-20del XP_011537310.1:n.1108-47_1108-20del
XM_024449279.1:c.589-47_589-20del XP_024305047.1:n.589-47_589-20del
NM_000020.3:c.1378-47_1378-20del MANE Select NP_000011.2:n.1378-47_1378-20del
NM_001077401.2:c.1378-47_1378-20del NP_001070869.1:n.1378-47_1378-20del