Canonical Allele Identifier: CA2580086442

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1790556
• ClinVar RCV Id: RCV002428552 ; RCV003481308

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913276_51913277insT , CM000674.2:g.51913276_51913277insT	GRCh38
NC_000012.11:g.52307060_52307061insT , CM000674.1:g.52307060_52307061insT	GRCh37
NC_000012.10:g.50593327_50593328insT	NCBI36
NG_009549.1:g.10859_10860insT , LRG_543:g.10859_10860insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.281_282insT	ENSP00000446724.2:p.Thr96HisfsTer?
ENST00000551576.6:c.239_240insT	ENSP00000455848.2:p.Thr82HisfsTer?
ENST00000552678.2:c.239_240insT	ENSP00000457394.2:p.Thr82HisfsTer?
ENST00000388922.9:c.239_240insT MANE Select	ENSP00000373574.4:p.Thr82HisfsTer?
ENST00000388922.8:c.239_240insT	ENSP00000373574.4:p.Thr82HisfsTer?
ENST00000419526.6:c.103+741_103+742insT	ENSP00000392492.2:n.103+741_103+742insT
ENST00000547400.5:c.281_282insT	ENSP00000446724.1:p.Thr96HisfsTer?
ENST00000550683.5:c.281_282insT	ENSP00000447884.1:p.Thr96HisfsTer?
ENST00000551576.5:c.239_240insT	ENSP00000455848.1:p.Thr82HisfsTer?
NM_000020.2:c.239_240insT , LRG_543t1:c.239_240insT	NP_000011.2:p.Thr82HisfsTer?
NM_001077401.1:c.239_240insT	NP_001070869.1:p.Thr82HisfsTer?
XM_005269235.2:c.239_240insT	XP_005269292.1:p.Thr82HisfsTer?
XM_011539008.1:c.281_282insT	XP_011537310.1:p.Thr96HisfsTer?
NM_000020.3:c.239_240insT MANE Select	NP_000011.2:p.Thr82HisfsTer?
NM_001077401.2:c.239_240insT	NP_001070869.1:p.Thr82HisfsTer?