Canonical Allele Identifier: CA913184985

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2137370
• ClinVar RCV Id: RCV003041158

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915316dup , CM000674.2:g.51915316dup	GRCh38
NC_000012.11:g.52309100dup , CM000674.1:g.52309100dup	GRCh37
NC_000012.10:g.50595367dup	NCBI36
NG_009549.1:g.12899dup , LRG_543:g.12899dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.594dup	ENSP00000446724.2:p.Leu199SerfsTer?
ENST00000551576.6:c.864dup	ENSP00000455848.2:p.Leu289SerfsTer?
ENST00000552678.2:c.864dup	ENSP00000457394.2:p.Leu289SerfsTer?
ENST00000388922.9:c.864dup MANE Select	ENSP00000373574.4:p.Leu289SerfsTer?
ENST00000388922.8:c.864dup	ENSP00000373574.4:p.Leu289SerfsTer?
ENST00000419526.6:c.342dup	ENSP00000392492.2:p.Leu115SerfsTer?
ENST00000550683.5:c.906dup	ENSP00000447884.1:p.Leu303SerfsTer?
NM_000020.2:c.864dup , LRG_543t1:c.864dup	NP_000011.2:p.Leu289SerfsTer?
NM_001077401.1:c.864dup	NP_001070869.1:p.Leu289SerfsTer?
XM_005269235.2:c.864dup	XP_005269292.1:p.Leu289SerfsTer?
XM_011539008.1:c.594dup	XP_011537310.1:p.Leu199SerfsTer?
XM_024449279.1:c.75dup	XP_024305047.1:p.Leu26SerfsTer?
NM_000020.3:c.864dup MANE Select	NP_000011.2:p.Leu289SerfsTer?
NM_001077401.2:c.864dup	NP_001070869.1:p.Leu289SerfsTer?