Canonical Allele Identifier: CA1139662702

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 949395
• ClinVar RCV Id: RCV001220846
• dbSNP Id: rs1940808154

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915381_51915384del , CM000674.2:g.51915381_51915384del	GRCh38
NC_000012.11:g.52309165_52309168del , CM000674.1:g.52309165_52309168del	GRCh37
NC_000012.10:g.50595432_50595435del	NCBI36
NG_009549.1:g.12964_12967del , LRG_543:g.12964_12967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.659_662del	ENSP00000446724.2:p.Leu220ArgfsTer?
ENST00000551576.6:c.929_932del	ENSP00000455848.2:p.Leu310ArgfsTer?
ENST00000552678.2:c.929_932del	ENSP00000457394.2:p.Leu310ArgfsTer?
ENST00000388922.9:c.929_932del MANE Select	ENSP00000373574.4:p.Leu310ArgfsTer?
ENST00000388922.8:c.929_932del	ENSP00000373574.4:p.Leu310ArgfsTer?
ENST00000419526.6:c.407_410del	ENSP00000392492.2:p.Leu136ArgfsTer?
ENST00000550683.5:c.971_974del	ENSP00000447884.1:p.Leu324ArgfsTer?
NM_000020.2:c.929_932del , LRG_543t1:c.929_932del	NP_000011.2:p.Leu310ArgfsTer?
NM_001077401.1:c.929_932del	NP_001070869.1:p.Leu310ArgfsTer?
XM_005269235.2:c.929_932del	XP_005269292.1:p.Leu310ArgfsTer?
XM_011539008.1:c.659_662del	XP_011537310.1:p.Leu220ArgfsTer?
XM_024449279.1:c.140_143del	XP_024305047.1:p.Leu47ArgfsTer?
NM_000020.3:c.929_932del MANE Select	NP_000011.2:p.Leu310ArgfsTer?
NM_001077401.2:c.929_932del	NP_001070869.1:p.Leu310ArgfsTer?