Canonical Allele Identifier: CA2036269070

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914505_51914508delinsTCTC , CM000674.2:g.51914505_51914508delinsTCTC	GRCh38
NC_000012.11:g.52308289_52308292delinsTCTC , CM000674.1:g.52308289_52308292delinsTCTC	GRCh37
NC_000012.10:g.50594556_50594559delinsTCTC	NCBI36
NG_009549.1:g.12088_12091delinsTCTC , LRG_543:g.12088_12091delinsTCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.422_425delinsTCTC	ENSP00000446724.2:p.Phe141=
ENST00000551576.6:c.692_695delinsTCTC	ENSP00000455848.2:p.Phe231=
ENST00000552678.2:c.692_695delinsTCTC	ENSP00000457394.2:p.Phe231=
ENST00000388922.9:c.692_695delinsTCTC MANE Select	ENSP00000373574.4:p.Phe231=
ENST00000388922.8:c.692_695delinsTCTC	ENSP00000373574.4:p.Phe231=
ENST00000419526.6:c.170_173delinsTCTC	ENSP00000392492.2:p.Phe57=
ENST00000547400.5:c.422_425delinsTCTC	ENSP00000446724.1:p.Phe141=
ENST00000550683.5:c.734_737delinsTCTC	ENSP00000447884.1:p.Phe245=
NM_000020.2:c.692_695delinsTCTC , LRG_543t1:c.692_695delinsTCTC	NP_000011.2:p.Phe231=
NM_001077401.1:c.692_695delinsTCTC	NP_001070869.1:p.Phe231=
XM_005269235.2:c.692_695delinsTCTC	XP_005269292.1:p.Phe231=
XM_011539008.1:c.422_425delinsTCTC	XP_011537310.1:p.Phe141=
XM_024449279.1:c.-98_-95delinsTCTC	XP_024305047.1:n.-98_-95delinsTCTC
NM_000020.3:c.692_695delinsTCTC MANE Select	NP_000011.2:p.Phe231=
NM_001077401.2:c.692_695delinsTCTC	NP_001070869.1:p.Phe231=