Canonical Allele Identifier: CA16614047

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 411316
• ClinVar RCV Id: RCV000476185
• dbSNP Id: rs1060503250
• MyVariant Identifiers: chr12:g.52307846_52307848del (hg19) ; chr12:g.51914062_51914064del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914062_51914064del , CM000674.2:g.51914062_51914064del	GRCh38
NC_000012.11:g.52307846_52307848del , CM000674.1:g.52307846_52307848del	GRCh37
NC_000012.10:g.50594113_50594115del	NCBI36
NG_009549.1:g.11645_11647del , LRG_543:g.11645_11647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.356-377_356-375del	ENSP00000446724.2:n.356-377_356-375del
ENST00000551576.6:c.614_616del	ENSP00000455848.2:p.Val205del
ENST00000552678.2:c.614_616del	ENSP00000457394.2:p.Val205del
ENST00000388922.9:c.614_616del MANE Select	ENSP00000373574.4:p.Val205del
ENST00000388922.8:c.614_616del	ENSP00000373574.4:p.Val205del
ENST00000419526.6:c.104-377_104-375del	ENSP00000392492.2:n.104-377_104-375del
ENST00000547400.5:c.356-377_356-375del	ENSP00000446724.1:n.356-377_356-375del
ENST00000550683.5:c.656_658del	ENSP00000447884.1:p.Val219del
NM_000020.2:c.614_616del , LRG_543t1:c.614_616del	NP_000011.2:p.Val205del
NM_001077401.1:c.614_616del	NP_001070869.1:p.Val205del
XM_005269235.2:c.614_616del	XP_005269292.1:p.Val205del
XM_011539008.1:c.356-377_356-375del	XP_011537310.1:n.356-377_356-375del
XM_024449279.1:c.-165+292_-165+294del	XP_024305047.1:n.-165+292_-165+294del
NM_000020.3:c.614_616del MANE Select	NP_000011.2:p.Val205del
NM_001077401.2:c.614_616del	NP_001070869.1:p.Val205del