Canonical Allele Identifier: CA2036241567
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920691_51920750delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA , CM000674.2:g.51920691_51920750delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA GRCh38
NC_000012.11:g.52314475_52314534delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA , CM000674.1:g.52314475_52314534delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA GRCh37
NC_000012.10:g.50600742_50600801delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA NCBI36
NG_009549.1:g.18274_18333delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA , LRG_543:g.18274_18333delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1378-68_1378-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA MANE Select ENSP00000373574.4:n.1378-68_1378-9delinsG...
ENST00000388922.8:c.1378-68_1378-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA ENSP00000373574.4:n.1378-68_1378-9delinsG...
ENST00000419526.6:c.856-68_856-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA ENSP00000392492.2:n.856-68_856-9delinsGAC...
ENST00000550683.5:c.1420-68_1420-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA ENSP00000447884.1:n.1420-68_1420-9delinsG...
NM_000020.2:c.1378-68_1378-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA , LRG_543t1:c.1378-68_1378-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA NP_000011.2:n.1378-68_1378-9delinsGACCCCC...
NM_001077401.1:c.1378-68_1378-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA NP_001070869.1:n.1378-68_1378-9delinsGACC...
XM_005269235.2:c.1378-68_1378-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA XP_005269292.1:n.1378-68_1378-9delinsGACC...
XM_011539008.1:c.1108-68_1108-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA XP_011537310.1:n.1108-68_1108-9delinsGACC...
XM_024449279.1:c.589-68_589-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA XP_024305047.1:n.589-68_589-9delinsGACCCC...
NM_000020.3:c.1378-68_1378-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA MANE Select NP_000011.2:n.1378-68_1378-9delinsGACCCCC...
NM_001077401.2:c.1378-68_1378-9delinsGACCCCCTCCTCTTCTCTGCATCTCTCTCTCTGCCTCCTCTCCTCTGCACCTCTCTCCCA NP_001070869.1:n.1378-68_1378-9delinsGACC...