Canonical Allele Identifier: CA2573148782

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1452945
• ClinVar RCV Id: RCV002000045 ; RCV002423133
• dbSNP Id: rs2139072772

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915259_51915262del , CM000674.2:g.51915259_51915262del	GRCh38
NC_000012.11:g.52309043_52309046del , CM000674.1:g.52309043_52309046del	GRCh37
NC_000012.10:g.50595310_50595313del	NCBI36
NG_009549.1:g.12842_12845del , LRG_543:g.12842_12845del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.537_540del	ENSP00000446724.2:p.Ser180ArgfsTer?
ENST00000551576.6:c.807_810del	ENSP00000455848.2:p.Ser270ArgfsTer?
ENST00000552678.2:c.807_810del	ENSP00000457394.2:p.Ser270ArgfsTer?
ENST00000388922.9:c.807_810del MANE Select	ENSP00000373574.4:p.Ser270ArgfsTer?
ENST00000388922.8:c.807_810del	ENSP00000373574.4:p.Ser270ArgfsTer?
ENST00000419526.6:c.285_288del	ENSP00000392492.2:p.Ser96ArgfsTer?
ENST00000550683.5:c.849_852del	ENSP00000447884.1:p.Ser284ArgfsTer?
NM_000020.2:c.807_810del , LRG_543t1:c.807_810del	NP_000011.2:p.Ser270ArgfsTer?
NM_001077401.1:c.807_810del	NP_001070869.1:p.Ser270ArgfsTer?
XM_005269235.2:c.807_810del	XP_005269292.1:p.Ser270ArgfsTer?
XM_011539008.1:c.537_540del	XP_011537310.1:p.Ser180ArgfsTer?
XM_024449279.1:c.18_21del	XP_024305047.1:p.Ser7ArgfsTer?
NM_000020.3:c.807_810del MANE Select	NP_000011.2:p.Ser270ArgfsTer?
NM_001077401.2:c.807_810del	NP_001070869.1:p.Ser270ArgfsTer?