Canonical Allele Identifier: CA947668812
Gene: ACVRL1 HGNC NCBI

Linked Data

dbSNP Id: rs1940952609

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920698_51920756del , CM000674.2:g.51920698_51920756del GRCh38
NC_000012.11:g.52314482_52314540del , CM000674.1:g.52314482_52314540del GRCh37
NC_000012.10:g.50600749_50600807del NCBI36
NG_009549.1:g.18281_18339del , LRG_543:g.18281_18339del

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1378-61_1378-3del MANE Select ENSP00000373574.4:n.1378-61_1378-3del
ENST00000388922.8:c.1378-61_1378-3del ENSP00000373574.4:n.1378-61_1378-3del
ENST00000419526.6:c.856-61_856-3del ENSP00000392492.2:n.856-61_856-3del
ENST00000550683.5:c.1420-61_1420-3del ENSP00000447884.1:n.1420-61_1420-3del
NM_000020.2:c.1378-61_1378-3del , LRG_543t1:c.1378-61_1378-3del NP_000011.2:n.1378-61_1378-3del
NM_001077401.1:c.1378-61_1378-3del NP_001070869.1:n.1378-61_1378-3del
XM_005269235.2:c.1378-61_1378-3del XP_005269292.1:n.1378-61_1378-3del
XM_011539008.1:c.1108-61_1108-3del XP_011537310.1:n.1108-61_1108-3del
XM_024449279.1:c.589-61_589-3del XP_024305047.1:n.589-61_589-3del
NM_000020.3:c.1378-61_1378-3del MANE Select NP_000011.2:n.1378-61_1378-3del
NM_001077401.2:c.1378-61_1378-3del NP_001070869.1:n.1378-61_1378-3del