Canonical Allele Identifier: CA2580086500

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2017178
• ClinVar RCV Id: RCV002856661

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916185del , CM000674.2:g.51916185del	GRCh38
NC_000012.11:g.52309969del , CM000674.1:g.52309969del	GRCh37
NC_000012.10:g.50596236del	NCBI36
NG_009549.1:g.13768del , LRG_543:g.13768del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.928del	ENSP00000446724.2:p.Ala310ProfsTer15
ENST00000551576.6:c.1198del	ENSP00000455848.2:p.Ala400ProfsTer15
ENST00000552678.2:c.1198del	ENSP00000457394.2:p.Ala400ProfsTer15
ENST00000388922.9:c.1198del MANE Select	ENSP00000373574.4:p.Ala400ProfsTer15
ENST00000388922.8:c.1198del	ENSP00000373574.4:p.Ala400ProfsTer15
ENST00000419526.6:c.676del	ENSP00000392492.2:p.Ala226ProfsTer15
ENST00000547632.1:n.473del
ENST00000550683.5:c.1240del	ENSP00000447884.1:p.Ala414ProfsTer15
ENST00000552678.1:c.203del
NM_000020.2:c.1198del , LRG_543t1:c.1198del	NP_000011.2:p.Ala400ProfsTer15
NM_001077401.1:c.1198del	NP_001070869.1:p.Ala400ProfsTer15
XM_005269235.2:c.1198del	XP_005269292.1:p.Ala400ProfsTer15
XM_011539008.1:c.928del	XP_011537310.1:p.Ala310ProfsTer15
XM_024449279.1:c.409del	XP_024305047.1:p.Ala137ProfsTer15
NM_000020.3:c.1198del MANE Select	NP_000011.2:p.Ala400ProfsTer15
NM_001077401.2:c.1198del	NP_001070869.1:p.Ala400ProfsTer15