Canonical Allele Identifier: CA2580086471

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1756828
• ClinVar RCV Id: RCV002378278 ; RCV003509729

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914516del , CM000674.2:g.51914516del	GRCh38
NC_000012.11:g.52308300del , CM000674.1:g.52308300del	GRCh37
NC_000012.10:g.50594567del	NCBI36
NG_009549.1:g.12099del , LRG_543:g.12099del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.433del	ENSP00000446724.2:p.Asp145MetfsTer23
ENST00000551576.6:c.703del	ENSP00000455848.2:p.Asp235MetfsTer23
ENST00000552678.2:c.703del	ENSP00000457394.2:p.Asp235MetfsTer23
ENST00000388922.9:c.703del MANE Select	ENSP00000373574.4:p.Asp235MetfsTer23
ENST00000388922.8:c.703del	ENSP00000373574.4:p.Asp235MetfsTer23
ENST00000419526.6:c.181del	ENSP00000392492.2:p.Asp61MetfsTer23
ENST00000547400.5:c.433del	ENSP00000446724.1:p.Asp145MetfsTer?
ENST00000550683.5:c.745del	ENSP00000447884.1:p.Asp249MetfsTer23
NM_000020.2:c.703del , LRG_543t1:c.703del	NP_000011.2:p.Asp235MetfsTer23
NM_001077401.1:c.703del	NP_001070869.1:p.Asp235MetfsTer23
XM_005269235.2:c.703del	XP_005269292.1:p.Asp235MetfsTer23
XM_011539008.1:c.433del	XP_011537310.1:p.Asp145MetfsTer23
XM_024449279.1:c.-87del	XP_024305047.1:n.-87del
NM_000020.3:c.703del MANE Select	NP_000011.2:p.Asp235MetfsTer23
NM_001077401.2:c.703del	NP_001070869.1:p.Asp235MetfsTer23