Canonical Allele Identifier: CA1139662697

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 982485
• ClinVar RCV Id: RCV001262079
• dbSNP Id: rs1940751760

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913620dup , CM000674.2:g.51913620dup	GRCh38
NC_000012.11:g.52307404dup , CM000674.1:g.52307404dup	GRCh37
NC_000012.10:g.50593671dup	NCBI36
NG_009549.1:g.11203dup , LRG_543:g.11203dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+270dup	ENSP00000446724.2:n.355+270dup
ENST00000551576.6:c.375dup	ENSP00000455848.2:p.Val126ArgfsTer?
ENST00000552678.2:c.375dup	ENSP00000457394.2:p.Val126ArgfsTer?
ENST00000388922.9:c.375dup MANE Select	ENSP00000373574.4:p.Val126ArgfsTer?
ENST00000388922.8:c.375dup	ENSP00000373574.4:p.Val126ArgfsTer?
ENST00000419526.6:c.104-819dup	ENSP00000392492.2:n.104-819dup
ENST00000547400.5:c.355+270dup	ENSP00000446724.1:n.355+270dup
ENST00000550683.5:c.417dup	ENSP00000447884.1:p.Val140ArgfsTer?
NM_000020.2:c.375dup , LRG_543t1:c.375dup	NP_000011.2:p.Val126ArgfsTer?
NM_001077401.1:c.375dup	NP_001070869.1:p.Val126ArgfsTer?
XM_005269235.2:c.375dup	XP_005269292.1:p.Val126ArgfsTer?
XM_011539008.1:c.355+270dup	XP_011537310.1:n.355+270dup
XM_024449279.1:c.-315dup	XP_024305047.1:n.-315dup
NM_000020.3:c.375dup MANE Select	NP_000011.2:p.Val126ArgfsTer?
NM_001077401.2:c.375dup	NP_001070869.1:p.Val126ArgfsTer?