Canonical Allele Identifier: CA2739272049

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2856667
• ClinVar RCV Id: RCV003621397

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915365_51915368del , CM000674.2:g.51915365_51915368del	GRCh38
NC_000012.11:g.52309149_52309152del , CM000674.1:g.52309149_52309152del	GRCh37
NC_000012.10:g.50595416_50595419del	NCBI36
NG_009549.1:g.12948_12951del , LRG_543:g.12948_12951del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.643_646del	ENSP00000446724.2:p.Ser215ArgfsTer?
ENST00000551576.6:c.913_916del	ENSP00000455848.2:p.Ser305ArgfsTer?
ENST00000552678.2:c.913_916del	ENSP00000457394.2:p.Ser305ArgfsTer?
ENST00000388922.9:c.913_916del MANE Select	ENSP00000373574.4:p.Ser305ArgfsTer?
ENST00000388922.8:c.913_916del	ENSP00000373574.4:p.Ser305ArgfsTer?
ENST00000419526.6:c.391_394del	ENSP00000392492.2:p.Ser131ArgfsTer?
ENST00000550683.5:c.955_958del	ENSP00000447884.1:p.Ser319ArgfsTer?
NM_000020.2:c.913_916del , LRG_543t1:c.913_916del	NP_000011.2:p.Ser305ArgfsTer?
NM_001077401.1:c.913_916del	NP_001070869.1:p.Ser305ArgfsTer?
XM_005269235.2:c.913_916del	XP_005269292.1:p.Ser305ArgfsTer?
XM_011539008.1:c.643_646del	XP_011537310.1:p.Ser215ArgfsTer?
XM_024449279.1:c.124_127del	XP_024305047.1:p.Ser42ArgfsTer?
NM_000020.3:c.913_916del MANE Select	NP_000011.2:p.Ser305ArgfsTer?
NM_001077401.2:c.913_916del	NP_001070869.1:p.Ser305ArgfsTer?