Canonical Allele Identifier: CA658683789

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 495052
• ClinVar RCV Id: RCV000585643
• dbSNP Id: rs1555152447
• MyVariant Identifiers: chr12:g.52306926del (hg19) ; chr12:g.51913142del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913142del , CM000674.2:g.51913142del	GRCh38
NC_000012.11:g.52306926del , CM000674.1:g.52306926del	GRCh37
NC_000012.10:g.50593193del	NCBI36
NG_009549.1:g.10725del , LRG_543:g.10725del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.147del	ENSP00000446724.2:p.Cys50ValfsTer18
ENST00000551576.6:c.105del	ENSP00000455848.2:p.Cys36ValfsTer18
ENST00000552678.2:c.105del	ENSP00000457394.2:p.Cys36ValfsTer18
ENST00000388922.9:c.105del MANE Select	ENSP00000373574.4:p.Cys36ValfsTer18
ENST00000388922.8:c.105del	ENSP00000373574.4:p.Cys36ValfsTer18
ENST00000419526.6:c.103+607del	ENSP00000392492.2:n.103+607del
ENST00000547400.5:c.147del	ENSP00000446724.1:p.Cys50ValfsTer18
ENST00000550683.5:c.147del	ENSP00000447884.1:p.Cys50ValfsTer18
ENST00000551576.5:c.105del	ENSP00000455848.1:p.Cys36ValfsTer18
NM_000020.2:c.105del , LRG_543t1:c.105del	NP_000011.2:p.Cys36ValfsTer18
NM_001077401.1:c.105del	NP_001070869.1:p.Cys36ValfsTer18
XM_005269235.2:c.105del	XP_005269292.1:p.Cys36ValfsTer18
XM_011539008.1:c.147del	XP_011537310.1:p.Cys50ValfsTer18
NM_000020.3:c.105del MANE Select	NP_000011.2:p.Cys36ValfsTer18
NM_001077401.2:c.105del	NP_001070869.1:p.Cys36ValfsTer18