Canonical Allele Identifier: CA2036267876

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913648_51913652delinsCTGGG , CM000674.2:g.51913648_51913652delinsCTGGG	GRCh38
NC_000012.11:g.52307432_52307436delinsCTGGG , CM000674.1:g.52307432_52307436delinsCTGGG	GRCh37
NC_000012.10:g.50593699_50593703delinsCTGGG	NCBI36
NG_009549.1:g.11231_11235delinsCTGGG , LRG_543:g.11231_11235delinsCTGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.355+298_355+302delinsCTGGG	ENSP00000446724.2:n.355+298_355+302delinsCTGGG
ENST00000551576.6:c.403_407delinsCTGGG	ENSP00000455848.2:p.Leu135=
ENST00000552678.2:c.403_407delinsCTGGG	ENSP00000457394.2:p.Leu135=
ENST00000388922.9:c.403_407delinsCTGGG MANE Select	ENSP00000373574.4:p.Leu135=
ENST00000388922.8:c.403_407delinsCTGGG	ENSP00000373574.4:p.Leu135=
ENST00000419526.6:c.104-791_104-787delinsCTGGG	ENSP00000392492.2:n.104-791_104-787delinsCTGGG
ENST00000547400.5:c.355+298_355+302delinsCTGGG	ENSP00000446724.1:n.355+298_355+302delinsCTGGG
ENST00000550683.5:c.445_449delinsCTGGG	ENSP00000447884.1:p.Leu149=
NM_000020.2:c.403_407delinsCTGGG , LRG_543t1:c.403_407delinsCTGGG	NP_000011.2:p.Leu135=
NM_001077401.1:c.403_407delinsCTGGG	NP_001070869.1:p.Leu135=
XM_005269235.2:c.403_407delinsCTGGG	XP_005269292.1:p.Leu135=
XM_011539008.1:c.355+298_355+302delinsCTGGG	XP_011537310.1:n.355+298_355+302delinsCTGGG
XM_024449279.1:c.-287_-283delinsCTGGG	XP_024305047.1:n.-287_-283delinsCTGGG
NM_000020.3:c.403_407delinsCTGGG MANE Select	NP_000011.2:p.Leu135=
NM_001077401.2:c.403_407delinsCTGGG	NP_001070869.1:p.Leu135=