Canonical Allele Identifier: CA2036241461

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920585_51920586delinsTC , CM000674.2:g.51920585_51920586delinsTC	GRCh38
NC_000012.11:g.52314369_52314370delinsTC , CM000674.1:g.52314369_52314370delinsTC	GRCh37
NC_000012.10:g.50600636_50600637delinsTC	NCBI36
NG_009549.1:g.18168_18169delinsTC , LRG_543:g.18168_18169delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1108-174_1108-173delinsTC	ENSP00000446724.2:n.1108-174_1108-173deli...
ENST00000551576.6:c.1378-174_1378-173delinsTC	ENSP00000455848.2:n.1378-174_1378-173deli...
ENST00000388922.9:c.1378-174_1378-173delinsTC MANE Select	ENSP00000373574.4:n.1378-174_1378-173deli...
ENST00000388922.8:c.1378-174_1378-173delinsTC	ENSP00000373574.4:n.1378-174_1378-173deli...
ENST00000419526.6:c.856-174_856-173delinsTC	ENSP00000392492.2:n.856-174_856-173delins...
ENST00000550683.5:c.1420-174_1420-173delinsTC	ENSP00000447884.1:n.1420-174_1420-173deli...
NM_000020.2:c.1378-174_1378-173delinsTC , LRG_543t1:c.1378-174_1378-173delinsTC	NP_000011.2:n.1378-174_1378-173delinsTC
NM_001077401.1:c.1378-174_1378-173delinsTC	NP_001070869.1:n.1378-174_1378-173delinsT...
XM_005269235.2:c.1378-174_1378-173delinsTC	XP_005269292.1:n.1378-174_1378-173delinsT...
XM_011539008.1:c.1108-174_1108-173delinsTC	XP_011537310.1:n.1108-174_1108-173delinsT...
XM_024449279.1:c.589-174_589-173delinsTC	XP_024305047.1:n.589-174_589-173delinsTC
NM_000020.3:c.1378-174_1378-173delinsTC MANE Select	NP_000011.2:n.1378-174_1378-173delinsTC
NM_001077401.2:c.1378-174_1378-173delinsTC	NP_001070869.1:n.1378-174_1378-173delinsT...