Canonical Allele Identifier: CA2580086476

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1763054
• ClinVar RCV Id: RCV002434716 ; RCV003619785

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915287_51915289dup , CM000674.2:g.51915287_51915289dup	GRCh38
NC_000012.11:g.52309071_52309073dup , CM000674.1:g.52309071_52309073dup	GRCh37
NC_000012.10:g.50595338_50595340dup	NCBI36
NG_009549.1:g.12870_12872dup , LRG_543:g.12870_12872dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.565_567dup	ENSP00000446724.2:p.Tyr189_His190insTyr
ENST00000551576.6:c.835_837dup	ENSP00000455848.2:p.Tyr279_His280insTyr
ENST00000552678.2:c.835_837dup	ENSP00000457394.2:p.Tyr279_His280insTyr
ENST00000388922.9:c.835_837dup MANE Select	ENSP00000373574.4:p.Tyr279_His280insTyr
ENST00000388922.8:c.835_837dup	ENSP00000373574.4:p.Tyr279_His280insTyr
ENST00000419526.6:c.313_315dup	ENSP00000392492.2:p.Tyr105_His106insTyr
ENST00000550683.5:c.877_879dup	ENSP00000447884.1:p.Tyr293_His294insTyr
NM_000020.2:c.835_837dup , LRG_543t1:c.835_837dup	NP_000011.2:p.Tyr279_His280insTyr
NM_001077401.1:c.835_837dup	NP_001070869.1:p.Tyr279_His280insTyr
XM_005269235.2:c.835_837dup	XP_005269292.1:p.Tyr279_His280insTyr
XM_011539008.1:c.565_567dup	XP_011537310.1:p.Tyr189_His190insTyr
XM_024449279.1:c.46_48dup	XP_024305047.1:p.Tyr16_His17insTyr
NM_000020.3:c.835_837dup MANE Select	NP_000011.2:p.Tyr279_His280insTyr
NM_001077401.2:c.835_837dup	NP_001070869.1:p.Tyr279_His280insTyr