Canonical Allele Identifier: CA645293884

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 426015
• ClinVar RCV Id: RCV000488551
• PubMed: PMID:23919827 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914466_51914467delinsCC , CM000674.2:g.51914466_51914467delinsCC	GRCh38
NC_000012.11:g.52308250_52308251delinsCC , CM000674.1:g.52308250_52308251delinsCC	GRCh37
NC_000012.10:g.50594517_50594518delinsCC	NCBI36
NG_009549.1:g.12049_12050delinsCC , LRG_543:g.12049_12050delinsCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.383_384delinsCC	ENSP00000446724.2:p.Arg128Pro
ENST00000551576.6:c.653_654delinsCC	ENSP00000455848.2:p.Arg218Pro
ENST00000552678.2:c.653_654delinsCC	ENSP00000457394.2:p.Arg218Pro
ENST00000388922.9:c.653_654delinsCC MANE Select	ENSP00000373574.4:p.Arg218Pro
ENST00000388922.8:c.653_654delinsCC	ENSP00000373574.4:p.Arg218Pro
ENST00000419526.6:c.131_132delinsCC	ENSP00000392492.2:p.Arg44Pro
ENST00000547400.5:c.383_384delinsCC	ENSP00000446724.1:p.Arg128Pro
ENST00000550683.5:c.695_696delinsCC	ENSP00000447884.1:p.Arg232Pro
NM_000020.2:c.653_654delinsCC , LRG_543t1:c.653_654delinsCC	NP_000011.2:p.Arg218Pro
NM_001077401.1:c.653_654delinsCC	NP_001070869.1:p.Arg218Pro
XM_005269235.2:c.653_654delinsCC	XP_005269292.1:p.Arg218Pro
XM_011539008.1:c.383_384delinsCC	XP_011537310.1:p.Arg128Pro
XM_024449279.1:c.-137_-136delinsCC	XP_024305047.1:n.-137_-136delinsCC
NM_000020.3:c.653_654delinsCC MANE Select	NP_000011.2:p.Arg218Pro
NM_001077401.2:c.653_654delinsCC	NP_001070869.1:p.Arg218Pro