Canonical Allele Identifier: CA2036241581
Gene: ACVRL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920704_51920732delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC , CM000674.2:g.51920704_51920732delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC GRCh38
NC_000012.11:g.52314488_52314516delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC , CM000674.1:g.52314488_52314516delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC GRCh37
NC_000012.10:g.50600755_50600783delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC NCBI36
NG_009549.1:g.18287_18315delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC , LRG_543:g.18287_18315delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC MANE Select ENSP00000373574.4:n.1378-55_1378-27delins...
ENST00000388922.8:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC ENSP00000373574.4:n.1378-55_1378-27delins...
ENST00000419526.6:c.856-55_856-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC ENSP00000392492.2:n.856-55_856-27delinsTC...
ENST00000550683.5:c.1420-55_1420-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC ENSP00000447884.1:n.1420-55_1420-27delins...
NM_000020.2:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC , LRG_543t1:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC NP_000011.2:n.1378-55_1378-27delinsTCTCTG...
NM_001077401.1:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC NP_001070869.1:n.1378-55_1378-27delinsTCT...
XM_005269235.2:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC XP_005269292.1:n.1378-55_1378-27delinsTCT...
XM_011539008.1:c.1108-55_1108-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC XP_011537310.1:n.1108-55_1108-27delinsTCT...
XM_024449279.1:c.589-55_589-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC XP_024305047.1:n.589-55_589-27delinsTCTCT...
NM_000020.3:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC MANE Select NP_000011.2:n.1378-55_1378-27delinsTCTCTG...
NM_001077401.2:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC NP_001070869.1:n.1378-55_1378-27delinsTCT...