Canonical Allele Identifier: CA2036268410

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914058_51914061delinsTTGG , CM000674.2:g.51914058_51914061delinsTTGG	GRCh38
NC_000012.11:g.52307842_52307845delinsTTGG , CM000674.1:g.52307842_52307845delinsTTGG	GRCh37
NC_000012.10:g.50594109_50594112delinsTTGG	NCBI36
NG_009549.1:g.11641_11644delinsTTGG , LRG_543:g.11641_11644delinsTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-381_356-378delinsTTGG	ENSP00000446724.2:n.356-381_356-378delinsTTGG
ENST00000551576.6:c.610_613delinsTTGG	ENSP00000455848.2:p.Leu204=
ENST00000552678.2:c.610_613delinsTTGG	ENSP00000457394.2:p.Leu204=
ENST00000388922.9:c.610_613delinsTTGG MANE Select	ENSP00000373574.4:p.Leu204=
ENST00000388922.8:c.610_613delinsTTGG	ENSP00000373574.4:p.Leu204=
ENST00000419526.6:c.104-381_104-378delinsTTGG	ENSP00000392492.2:n.104-381_104-378delinsTTGG
ENST00000547400.5:c.356-381_356-378delinsTTGG	ENSP00000446724.1:n.356-381_356-378delinsTTGG
ENST00000550683.5:c.652_655delinsTTGG	ENSP00000447884.1:p.Leu218=
NM_000020.2:c.610_613delinsTTGG , LRG_543t1:c.610_613delinsTTGG	NP_000011.2:p.Leu204=
NM_001077401.1:c.610_613delinsTTGG	NP_001070869.1:p.Leu204=
XM_005269235.2:c.610_613delinsTTGG	XP_005269292.1:p.Leu204=
XM_011539008.1:c.356-381_356-378delinsTTGG	XP_011537310.1:n.356-381_356-378delinsTTGG
XM_024449279.1:c.-165+288_-165+291delinsTTGG	XP_024305047.1:n.-165+288_-165+291delinsTTGG
NM_000020.3:c.610_613delinsTTGG MANE Select	NP_000011.2:p.Leu204=
NM_001077401.2:c.610_613delinsTTGG	NP_001070869.1:p.Leu204=