Canonical Allele Identifier: CA1139662711

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 982451
• ClinVar RCV Id: RCV001262030
• dbSNP Id: rs1940958854

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920829del , CM000674.2:g.51920829del	GRCh38
NC_000012.11:g.52314613del , CM000674.1:g.52314613del	GRCh37
NC_000012.10:g.50600880del	NCBI36
NG_009549.1:g.18412del , LRG_543:g.18412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1178del	ENSP00000446724.2:p.Leu393ArgfsTer19
ENST00000551576.6:c.1448del	ENSP00000455848.2:p.Leu483ArgfsTer19
ENST00000388922.9:c.1448del MANE Select	ENSP00000373574.4:p.Leu483ArgfsTer19
ENST00000388922.8:c.1448del	ENSP00000373574.4:p.Leu483ArgfsTer19
ENST00000419526.6:c.926del	ENSP00000392492.2:p.Leu309ArgfsTer19
ENST00000550683.5:c.1490del	ENSP00000447884.1:p.Leu497ArgfsTer19
NM_000020.2:c.1448del , LRG_543t1:c.1448del	NP_000011.2:p.Leu483ArgfsTer19
NM_001077401.1:c.1448del	NP_001070869.1:p.Leu483ArgfsTer19
XM_005269235.2:c.1448del	XP_005269292.1:p.Leu483ArgfsTer19
XM_011539008.1:c.1178del	XP_011537310.1:p.Leu393ArgfsTer19
XM_024449279.1:c.659del	XP_024305047.1:p.Leu220ArgfsTer19
NM_000020.3:c.1448del MANE Select	NP_000011.2:p.Leu483ArgfsTer19
NM_001077401.2:c.1448del	NP_001070869.1:p.Leu483ArgfsTer19