Canonical Allele Identifier: CA2036241593

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920711_51920713delinsATC , CM000674.2:g.51920711_51920713delinsATC	GRCh38
NC_000012.11:g.52314495_52314497delinsATC , CM000674.1:g.52314495_52314497delinsATC	GRCh37
NC_000012.10:g.50600762_50600764delinsATC	NCBI36
NG_009549.1:g.18294_18296delinsATC , LRG_543:g.18294_18296delinsATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1108-48_1108-46delinsATC	ENSP00000446724.2:n.1108-48_1108-46delins...
ENST00000551576.6:c.1378-48_1378-46delinsATC	ENSP00000455848.2:n.1378-48_1378-46delins...
ENST00000388922.9:c.1378-48_1378-46delinsATC MANE Select	ENSP00000373574.4:n.1378-48_1378-46delins...
ENST00000388922.8:c.1378-48_1378-46delinsATC	ENSP00000373574.4:n.1378-48_1378-46delins...
ENST00000419526.6:c.856-48_856-46delinsATC	ENSP00000392492.2:n.856-48_856-46delinsAT...
ENST00000550683.5:c.1420-48_1420-46delinsATC	ENSP00000447884.1:n.1420-48_1420-46delins...
NM_000020.2:c.1378-48_1378-46delinsATC , LRG_543t1:c.1378-48_1378-46delinsATC	NP_000011.2:n.1378-48_1378-46delinsATC
NM_001077401.1:c.1378-48_1378-46delinsATC	NP_001070869.1:n.1378-48_1378-46delinsATC...
XM_005269235.2:c.1378-48_1378-46delinsATC	XP_005269292.1:n.1378-48_1378-46delinsATC...
XM_011539008.1:c.1108-48_1108-46delinsATC	XP_011537310.1:n.1108-48_1108-46delinsATC...
XM_024449279.1:c.589-48_589-46delinsATC	XP_024305047.1:n.589-48_589-46delinsATC
NM_000020.3:c.1378-48_1378-46delinsATC MANE Select	NP_000011.2:n.1378-48_1378-46delinsATC
NM_001077401.2:c.1378-48_1378-46delinsATC	NP_001070869.1:n.1378-48_1378-46delinsATC...