Canonical Allele Identifier: CA2036241061

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920248_51920249delinsAG , CM000674.2:g.51920248_51920249delinsAG	GRCh38
NC_000012.11:g.52314032_52314033delinsAG , CM000674.1:g.52314032_52314033delinsAG	GRCh37
NC_000012.10:g.50600299_50600300delinsAG	NCBI36
NG_009549.1:g.17831_17832delinsAG , LRG_543:g.17831_17832delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1108-511_1108-510delinsAG	ENSP00000446724.2:n.1108-511_1108-510delinsAG
ENST00000551576.6:c.1378-511_1378-510delinsAG	ENSP00000455848.2:n.1378-511_1378-510delinsAG
ENST00000388922.9:c.1378-511_1378-510delinsAG MANE Select	ENSP00000373574.4:n.1378-511_1378-510delinsAG
ENST00000388922.8:c.1378-511_1378-510delinsAG	ENSP00000373574.4:n.1378-511_1378-510delinsAG
ENST00000419526.6:c.856-511_856-510delinsAG	ENSP00000392492.2:n.856-511_856-510delinsAG
ENST00000550683.5:c.1420-511_1420-510delinsAG	ENSP00000447884.1:n.1420-511_1420-510delinsAG
NM_000020.2:c.1378-511_1378-510delinsAG , LRG_543t1:c.1378-511_1378-510delinsAG	NP_000011.2:n.1378-511_1378-510delinsAG
NM_001077401.1:c.1378-511_1378-510delinsAG	NP_001070869.1:n.1378-511_1378-510delinsAG
XM_005269235.2:c.1378-511_1378-510delinsAG	XP_005269292.1:n.1378-511_1378-510delinsAG
XM_011539008.1:c.1108-511_1108-510delinsAG	XP_011537310.1:n.1108-511_1108-510delinsAG
XM_024449279.1:c.589-511_589-510delinsAG	XP_024305047.1:n.589-511_589-510delinsAG
NM_000020.3:c.1378-511_1378-510delinsAG MANE Select	NP_000011.2:n.1378-511_1378-510delinsAG
NM_001077401.2:c.1378-511_1378-510delinsAG	NP_001070869.1:n.1378-511_1378-510delinsAG