Canonical Allele Identifier: CA2580615205

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1756170
• ClinVar RCV Id: RCV002362375 ; RCV003098419

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914505_51914507del , CM000674.2:g.51914505_51914507del	GRCh38
NC_000012.11:g.52308289_52308291del , CM000674.1:g.52308289_52308291del	GRCh37
NC_000012.10:g.50594556_50594558del	NCBI36
NG_009549.1:g.12088_12090del , LRG_543:g.12088_12090del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.422_424del	ENSP00000446724.2:p.Phe141del
ENST00000551576.6:c.692_694del	ENSP00000455848.2:p.Phe231del
ENST00000552678.2:c.692_694del	ENSP00000457394.2:p.Phe231del
ENST00000388922.9:c.692_694del MANE Select	ENSP00000373574.4:p.Phe231del
ENST00000388922.8:c.692_694del	ENSP00000373574.4:p.Phe231del
ENST00000419526.6:c.170_172del	ENSP00000392492.2:p.Phe57del
ENST00000547400.5:c.422_424del	ENSP00000446724.1:p.Phe141del
ENST00000550683.5:c.734_736del	ENSP00000447884.1:p.Phe245del
NM_000020.2:c.692_694del , LRG_543t1:c.692_694del	NP_000011.2:p.Phe231del
NM_001077401.1:c.692_694del	NP_001070869.1:p.Phe231del
XM_005269235.2:c.692_694del	XP_005269292.1:p.Phe231del
XM_011539008.1:c.422_424del	XP_011537310.1:p.Phe141del
XM_024449279.1:c.-98_-96del	XP_024305047.1:n.-98_-96del
NM_000020.3:c.692_694del MANE Select	NP_000011.2:p.Phe231del
NM_001077401.2:c.692_694del	NP_001070869.1:p.Phe231del