Canonical Allele Identifier: CA2580086440

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1785897
• ClinVar RCV Id: RCV002424209

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913247_51913250delinsAAA , CM000674.2:g.51913247_51913250delinsAAA	GRCh38
NC_000012.11:g.52307031_52307034delinsAAA , CM000674.1:g.52307031_52307034delinsAAA	GRCh37
NC_000012.10:g.50593298_50593301delinsAAA	NCBI36
NG_009549.1:g.10830_10833delinsAAA , LRG_543:g.10830_10833delinsAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.252_255delinsAAA	ENSP00000446724.2:p.Leu86CysfsTer?
ENST00000551576.6:c.210_213delinsAAA	ENSP00000455848.2:p.Leu72CysfsTer?
ENST00000552678.2:c.210_213delinsAAA	ENSP00000457394.2:p.Leu72CysfsTer?
ENST00000388922.9:c.210_213delinsAAA MANE Select	ENSP00000373574.4:p.Leu72CysfsTer?
ENST00000388922.8:c.210_213delinsAAA	ENSP00000373574.4:p.Leu72CysfsTer?
ENST00000419526.6:c.103+712_103+715delinsAAA	ENSP00000392492.2:n.103+712_103+715delins...
ENST00000547400.5:c.252_255delinsAAA	ENSP00000446724.1:p.Leu86CysfsTer?
ENST00000550683.5:c.252_255delinsAAA	ENSP00000447884.1:p.Leu86CysfsTer?
ENST00000551576.5:c.210_213delinsAAA	ENSP00000455848.1:p.Leu72CysfsTer?
NM_000020.2:c.210_213delinsAAA , LRG_543t1:c.210_213delinsAAA	NP_000011.2:p.Leu72CysfsTer?
NM_001077401.1:c.210_213delinsAAA	NP_001070869.1:p.Leu72CysfsTer?
XM_005269235.2:c.210_213delinsAAA	XP_005269292.1:p.Leu72CysfsTer?
XM_011539008.1:c.252_255delinsAAA	XP_011537310.1:p.Leu86CysfsTer?
NM_000020.3:c.210_213delinsAAA MANE Select	NP_000011.2:p.Leu72CysfsTer?
NM_001077401.2:c.210_213delinsAAA	NP_001070869.1:p.Leu72CysfsTer?