Canonical Allele Identifier: CA2036241282

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920442_51920446delinsTTCTC , CM000674.2:g.51920442_51920446delinsTTCTC	GRCh38
NC_000012.11:g.52314226_52314230delinsTTCTC , CM000674.1:g.52314226_52314230delinsTTCTC	GRCh37
NC_000012.10:g.50600493_50600497delinsTTCTC	NCBI36
NG_009549.1:g.18025_18029delinsTTCTC , LRG_543:g.18025_18029delinsTTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1108-317_1108-313delinsTTCTC	ENSP00000446724.2:n.1108-317_1108-313delinsTTCTC
ENST00000551576.6:c.1378-317_1378-313delinsTTCTC	ENSP00000455848.2:n.1378-317_1378-313delinsTTCTC
ENST00000388922.9:c.1378-317_1378-313delinsTTCTC MANE Select	ENSP00000373574.4:n.1378-317_1378-313delinsTTCTC
ENST00000388922.8:c.1378-317_1378-313delinsTTCTC	ENSP00000373574.4:n.1378-317_1378-313delinsTTCTC
ENST00000419526.6:c.856-317_856-313delinsTTCTC	ENSP00000392492.2:n.856-317_856-313delinsTTCTC
ENST00000550683.5:c.1420-317_1420-313delinsTTCTC	ENSP00000447884.1:n.1420-317_1420-313delinsTTCTC
NM_000020.2:c.1378-317_1378-313delinsTTCTC , LRG_543t1:c.1378-317_1378-313delinsTTCTC	NP_000011.2:n.1378-317_1378-313delinsTTCTC
NM_001077401.1:c.1378-317_1378-313delinsTTCTC	NP_001070869.1:n.1378-317_1378-313delinsTTCTC
XM_005269235.2:c.1378-317_1378-313delinsTTCTC	XP_005269292.1:n.1378-317_1378-313delinsTTCTC
XM_011539008.1:c.1108-317_1108-313delinsTTCTC	XP_011537310.1:n.1108-317_1108-313delinsTTCTC
XM_024449279.1:c.589-317_589-313delinsTTCTC	XP_024305047.1:n.589-317_589-313delinsTTCTC
NM_000020.3:c.1378-317_1378-313delinsTTCTC MANE Select	NP_000011.2:n.1378-317_1378-313delinsTTCTC
NM_001077401.2:c.1378-317_1378-313delinsTTCTC	NP_001070869.1:n.1378-317_1378-313delinsTTCTC