Canonical Allele Identifier: CA2580086477

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2030830
• ClinVar RCV Id: RCV002898687

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915290_51915294del , CM000674.2:g.51915290_51915294del	GRCh38
NC_000012.11:g.52309074_52309078del , CM000674.1:g.52309074_52309078del	GRCh37
NC_000012.10:g.50595341_50595345del	NCBI36
NG_009549.1:g.12873_12877del , LRG_543:g.12873_12877del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.568_572del	ENSP00000446724.2:p.His190AlafsTer?
ENST00000551576.6:c.838_842del	ENSP00000455848.2:p.His280AlafsTer?
ENST00000552678.2:c.838_842del	ENSP00000457394.2:p.His280AlafsTer?
ENST00000388922.9:c.838_842del MANE Select	ENSP00000373574.4:p.His280AlafsTer?
ENST00000388922.8:c.838_842del	ENSP00000373574.4:p.His280AlafsTer?
ENST00000419526.6:c.316_320del	ENSP00000392492.2:p.His106AlafsTer?
ENST00000550683.5:c.880_884del	ENSP00000447884.1:p.His294AlafsTer?
NM_000020.2:c.838_842del , LRG_543t1:c.838_842del	NP_000011.2:p.His280AlafsTer?
NM_001077401.1:c.838_842del	NP_001070869.1:p.His280AlafsTer?
XM_005269235.2:c.838_842del	XP_005269292.1:p.His280AlafsTer?
XM_011539008.1:c.568_572del	XP_011537310.1:p.His190AlafsTer?
XM_024449279.1:c.49_53del	XP_024305047.1:p.His17AlafsTer?
NM_000020.3:c.838_842del MANE Select	NP_000011.2:p.His280AlafsTer?
NM_001077401.2:c.838_842del	NP_001070869.1:p.His280AlafsTer?