Canonical Allele Identifier: CA2695216732

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920831_51920833dup , CM000674.2:g.51920831_51920833dup	GRCh38
NC_000012.11:g.52314615_52314617dup , CM000674.1:g.52314615_52314617dup	GRCh37
NC_000012.10:g.50600882_50600884dup	NCBI36
NG_009549.1:g.18414_18416dup , LRG_543:g.18414_18416dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1180_1182dup	ENSP00000446724.2:p.Arg394_Ile395insArg
ENST00000551576.6:c.1450_1452dup	ENSP00000455848.2:p.Arg484_Ile485insArg
ENST00000388922.9:c.1450_1452dup MANE Select	ENSP00000373574.4:p.Arg484_Ile485insArg
ENST00000388922.8:c.1450_1452dup	ENSP00000373574.4:p.Arg484_Ile485insArg
ENST00000419526.6:c.928_930dup	ENSP00000392492.2:p.Arg310_Ile311insArg
ENST00000550683.5:c.1492_1494dup	ENSP00000447884.1:p.Arg498_Ile499insArg
NM_000020.2:c.1450_1452dup , LRG_543t1:c.1450_1452dup	NP_000011.2:p.Arg484_Ile485insArg
NM_001077401.1:c.1450_1452dup	NP_001070869.1:p.Arg484_Ile485insArg
XM_005269235.2:c.1450_1452dup	XP_005269292.1:p.Arg484_Ile485insArg
XM_011539008.1:c.1180_1182dup	XP_011537310.1:p.Arg394_Ile395insArg
XM_024449279.1:c.661_663dup	XP_024305047.1:p.Arg221_Ile222insArg
NM_000020.3:c.1450_1452dup MANE Select	NP_000011.2:p.Arg484_Ile485insArg
NM_001077401.2:c.1450_1452dup	NP_001070869.1:p.Arg484_Ile485insArg