Canonical Allele Identifier: CA2036241581

Gene: ACVRL1

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
ENST00000547400.6:c.1108-55_1108-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC	ENSP00000446724.2:n.1108-55_1108-27delinsTCTCTGCATCTCTCTCTCTG...
ENST00000551576.6:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC	ENSP00000455848.2:n.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTG...
ENST00000388922.9:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC MANE Select	ENSP00000373574.4:n.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTG...
ENST00000388922.8:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC	ENSP00000373574.4:n.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTG...
ENST00000419526.6:c.856-55_856-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC	ENSP00000392492.2:n.856-55_856-27delinsTCTCTGCATCTCTCTCTCTGCC...
ENST00000550683.5:c.1420-55_1420-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC	ENSP00000447884.1:n.1420-55_1420-27delinsTCTCTGCATCTCTCTCTCTG...
NM_000020.2:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC , LRG_543t1:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC	NP_000011.2:n.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCT...
NM_001077401.1:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC	NP_001070869.1:n.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCT...
XM_005269235.2:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC	XP_005269292.1:n.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCT...
XM_011539008.1:c.1108-55_1108-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC	XP_011537310.1:n.1108-55_1108-27delinsTCTCTGCATCTCTCTCTCTGCCT...
XM_024449279.1:c.589-55_589-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC	XP_024305047.1:n.589-55_589-27delinsTCTCTGCATCTCTCTCTCTGCCTCC...
NM_000020.3:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC MANE Select	NP_000011.2:n.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCT...
NM_001077401.2:c.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCTCCTCTC	NP_001070869.1:n.1378-55_1378-27delinsTCTCTGCATCTCTCTCTCTGCCT...