Canonical Allele Identifier: CA2573148789
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1459039
ClinVar RCV Id: RCV001958808

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920762dup , CM000674.2:g.51920762dup GRCh38
NC_000012.11:g.52314546dup , CM000674.1:g.52314546dup GRCh37
NC_000012.10:g.50600813dup NCBI36
NG_009549.1:g.18345dup , LRG_543:g.18345dup

Transcript Alleles

HGVS Amino-acid change
ENST00000388922.9:c.1381dup MANE Select ENSP00000373574.4:p.Leu461ProfsTer?
ENST00000388922.8:c.1381dup ENSP00000373574.4:p.Leu461ProfsTer?
ENST00000419526.6:c.859dup ENSP00000392492.2:p.Leu287ProfsTer?
ENST00000550683.5:c.1423dup ENSP00000447884.1:p.Leu475ProfsTer?
NM_000020.2:c.1381dup , LRG_543t1:c.1381dup NP_000011.2:p.Leu461ProfsTer?
NM_001077401.1:c.1381dup NP_001070869.1:p.Leu461ProfsTer?
XM_005269235.2:c.1381dup XP_005269292.1:p.Leu461ProfsTer?
XM_011539008.1:c.1111dup XP_011537310.1:p.Leu371ProfsTer?
XM_024449279.1:c.592dup XP_024305047.1:p.Leu198ProfsTer?
NM_000020.3:c.1381dup MANE Select NP_000011.2:p.Leu461ProfsTer?
NM_001077401.2:c.1381dup NP_001070869.1:p.Leu461ProfsTer?