Canonical Allele Identifier: CA2580086478

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1763921
• ClinVar RCV Id: RCV002447904

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915310_51915311insA , CM000674.2:g.51915310_51915311insA	GRCh38
NC_000012.11:g.52309094_52309095insA , CM000674.1:g.52309094_52309095insA	GRCh37
NC_000012.10:g.50595361_50595362insA	NCBI36
NG_009549.1:g.12893_12894insA , LRG_543:g.12893_12894insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.588_589insA	ENSP00000446724.2:p.Asp197ArgfsTer?
ENST00000551576.6:c.858_859insA	ENSP00000455848.2:p.Asp287ArgfsTer?
ENST00000552678.2:c.858_859insA	ENSP00000457394.2:p.Asp287ArgfsTer?
ENST00000388922.9:c.858_859insA MANE Select	ENSP00000373574.4:p.Asp287ArgfsTer?
ENST00000388922.8:c.858_859insA	ENSP00000373574.4:p.Asp287ArgfsTer?
ENST00000419526.6:c.336_337insA	ENSP00000392492.2:p.Asp113ArgfsTer?
ENST00000550683.5:c.900_901insA	ENSP00000447884.1:p.Asp301ArgfsTer?
NM_000020.2:c.858_859insA , LRG_543t1:c.858_859insA	NP_000011.2:p.Asp287ArgfsTer?
NM_001077401.1:c.858_859insA	NP_001070869.1:p.Asp287ArgfsTer?
XM_005269235.2:c.858_859insA	XP_005269292.1:p.Asp287ArgfsTer?
XM_011539008.1:c.588_589insA	XP_011537310.1:p.Asp197ArgfsTer?
XM_024449279.1:c.69_70insA	XP_024305047.1:p.Asp24ArgfsTer?
NM_000020.3:c.858_859insA MANE Select	NP_000011.2:p.Asp287ArgfsTer?
NM_001077401.2:c.858_859insA	NP_001070869.1:p.Asp287ArgfsTer?