Canonical Allele Identifier: CA2036241387

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920530_51920531delinsGT , CM000674.2:g.51920530_51920531delinsGT	GRCh38
NC_000012.11:g.52314314_52314315delinsGT , CM000674.1:g.52314314_52314315delinsGT	GRCh37
NC_000012.10:g.50600581_50600582delinsGT	NCBI36
NG_009549.1:g.18113_18114delinsGT , LRG_543:g.18113_18114delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1108-229_1108-228delinsGT	ENSP00000446724.2:n.1108-229_1108-228delinsGT
ENST00000551576.6:c.1378-229_1378-228delinsGT	ENSP00000455848.2:n.1378-229_1378-228delinsGT
ENST00000388922.9:c.1378-229_1378-228delinsGT MANE Select	ENSP00000373574.4:n.1378-229_1378-228delinsGT
ENST00000388922.8:c.1378-229_1378-228delinsGT	ENSP00000373574.4:n.1378-229_1378-228delinsGT
ENST00000419526.6:c.856-229_856-228delinsGT	ENSP00000392492.2:n.856-229_856-228delinsGT
ENST00000550683.5:c.1420-229_1420-228delinsGT	ENSP00000447884.1:n.1420-229_1420-228delinsGT
NM_000020.2:c.1378-229_1378-228delinsGT , LRG_543t1:c.1378-229_1378-228delinsGT	NP_000011.2:n.1378-229_1378-228delinsGT
NM_001077401.1:c.1378-229_1378-228delinsGT	NP_001070869.1:n.1378-229_1378-228delinsGT
XM_005269235.2:c.1378-229_1378-228delinsGT	XP_005269292.1:n.1378-229_1378-228delinsGT
XM_011539008.1:c.1108-229_1108-228delinsGT	XP_011537310.1:n.1108-229_1108-228delinsGT
XM_024449279.1:c.589-229_589-228delinsGT	XP_024305047.1:n.589-229_589-228delinsGT
NM_000020.3:c.1378-229_1378-228delinsGT MANE Select	NP_000011.2:n.1378-229_1378-228delinsGT
NM_001077401.2:c.1378-229_1378-228delinsGT	NP_001070869.1:n.1378-229_1378-228delinsGT