Canonical Allele Identifier: CA1139662696

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 957225
• ClinVar RCV Id: RCV001230171
• dbSNP Id: rs1940750523

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913581del , CM000674.2:g.51913581del	GRCh38
NC_000012.11:g.52307365del , CM000674.1:g.52307365del	GRCh37
NC_000012.10:g.50593632del	NCBI36
NG_009549.1:g.11164del , LRG_543:g.11164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+231del	ENSP00000446724.2:n.355+231del
ENST00000551576.6:c.336del	ENSP00000455848.2:p.Gln112HisfsTer10
ENST00000552678.2:c.336del	ENSP00000457394.2:p.Gln112HisfsTer10
ENST00000388922.9:c.336del MANE Select	ENSP00000373574.4:p.Gln112HisfsTer10
ENST00000388922.8:c.336del	ENSP00000373574.4:p.Gln112HisfsTer10
ENST00000419526.6:c.104-858del	ENSP00000392492.2:n.104-858del
ENST00000547400.5:c.355+231del	ENSP00000446724.1:n.355+231del
ENST00000550683.5:c.378del	ENSP00000447884.1:p.Gln126HisfsTer10
NM_000020.2:c.336del , LRG_543t1:c.336del	NP_000011.2:p.Gln112HisfsTer10
NM_001077401.1:c.336del	NP_001070869.1:p.Gln112HisfsTer10
XM_005269235.2:c.336del	XP_005269292.1:p.Gln112HisfsTer10
XM_011539008.1:c.355+231del	XP_011537310.1:n.355+231del
XM_024449279.1:c.-354del	XP_024305047.1:n.-354del
NM_000020.3:c.336del MANE Select	NP_000011.2:p.Gln112HisfsTer10
NM_001077401.2:c.336del	NP_001070869.1:p.Gln112HisfsTer10