Canonical Allele Identifier: CA119399

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 8250
• ClinVar RCV Id: RCV000008735 ; RCV000008736 ; RCV000755791 ; RCV002390098
• dbSNP Id: rs387906393
• MyVariant Identifiers: chr12:g.52308357_52308359del (hg19) ; chr12:g.51914573_51914575del (hg38)
• PubMed: PMID:11484689

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914573_51914575del , CM000674.2:g.51914573_51914575del	GRCh38
NC_000012.11:g.52308357_52308359del , CM000674.1:g.52308357_52308359del	GRCh37
NC_000012.10:g.50594624_50594626del	NCBI36
NG_009549.1:g.12156_12158del , LRG_543:g.12156_12158del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.490_492del	ENSP00000446724.2:p.Asp164del
ENST00000551576.6:c.760_762del	ENSP00000455848.2:p.Asp254del
ENST00000552678.2:c.760_762del	ENSP00000457394.2:p.Asp254del
ENST00000388922.9:c.760_762del MANE Select	ENSP00000373574.4:p.Asp254del
ENST00000388922.8:c.760_762del	ENSP00000373574.4:p.Asp254del
ENST00000419526.6:c.238_240del	ENSP00000392492.2:p.Asp80del
ENST00000550683.5:c.802_804del	ENSP00000447884.1:p.Asp268del
NM_000020.2:c.760_762del , LRG_543t1:c.760_762del	NP_000011.2:p.Asp254del
NM_001077401.1:c.760_762del	NP_001070869.1:p.Asp254del
XM_005269235.2:c.760_762del	XP_005269292.1:p.Asp254del
XM_011539008.1:c.490_492del	XP_011537310.1:p.Asp164del
XM_024449279.1:c.-30_-28del	XP_024305047.1:n.-30_-28del
NM_000020.3:c.760_762del MANE Select	NP_000011.2:p.Asp254del
NM_001077401.2:c.760_762del	NP_001070869.1:p.Asp254del