Canonical Allele Identifier: CA2036236246

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915485_51915490delinsTGCATC , CM000674.2:g.51915485_51915490delinsTGCATC	GRCh38
NC_000012.11:g.52309269_52309274delinsTGCATC , CM000674.1:g.52309269_52309274delinsTGCATC	GRCh37
NC_000012.10:g.50595536_50595541delinsTGCATC	NCBI36
NG_009549.1:g.13068_13073delinsTGCATC , LRG_543:g.13068_13073delinsTGCATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.763_768delinsTGCATC	ENSP00000446724.2:p.Cys255=
ENST00000551576.6:c.1033_1038delinsTGCATC	ENSP00000455848.2:p.Cys345=
ENST00000552678.2:c.1033_1038delinsTGCATC	ENSP00000457394.2:p.Cys345=
ENST00000388922.9:c.1033_1038delinsTGCATC MANE Select	ENSP00000373574.4:p.Cys345=
ENST00000388922.8:c.1033_1038delinsTGCATC	ENSP00000373574.4:p.Cys345=
ENST00000419526.6:c.511_516delinsTGCATC	ENSP00000392492.2:p.Cys171=
ENST00000550683.5:c.1075_1080delinsTGCATC	ENSP00000447884.1:p.Cys359=
ENST00000552678.1:c.38_43delinsTGCATC
NM_000020.2:c.1033_1038delinsTGCATC , LRG_543t1:c.1033_1038delinsTGCATC	NP_000011.2:p.Cys345=
NM_001077401.1:c.1033_1038delinsTGCATC	NP_001070869.1:p.Cys345=
XM_005269235.2:c.1033_1038delinsTGCATC	XP_005269292.1:p.Cys345=
XM_011539008.1:c.763_768delinsTGCATC	XP_011537310.1:p.Cys255=
XM_024449279.1:c.244_249delinsTGCATC	XP_024305047.1:p.Cys82=
NM_000020.3:c.1033_1038delinsTGCATC MANE Select	NP_000011.2:p.Cys345=
NM_001077401.2:c.1033_1038delinsTGCATC	NP_001070869.1:p.Cys345=