Canonical Allele Identifier: CA16614035
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411301
ClinVar RCV Id: RCV000462051
dbSNP Id: rs1060503236

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51912515dup , CM000674.2:g.51912515dup GRCh38
NC_000012.11:g.52306299dup , CM000674.1:g.52306299dup GRCh37
NC_000012.10:g.50592566dup NCBI36
NG_009549.1:g.10098dup , LRG_543:g.10098dup

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.83dup ENSP00000446724.2:p.Met29AspfsTer23
ENST00000551576.6:c.41dup ENSP00000455848.2:p.Met15AspfsTer23
ENST00000552678.2:c.41dup ENSP00000457394.2:p.Met15AspfsTer23
ENST00000388922.9:c.41dup MANE Select ENSP00000373574.4:p.Met15AspfsTer23
ENST00000388922.8:c.41dup ENSP00000373574.4:p.Met15AspfsTer23
ENST00000419526.6:c.83dup ENSP00000392492.2:p.Met29AspfsTer22
ENST00000547400.5:c.83dup ENSP00000446724.1:p.Met29AspfsTer23
ENST00000550683.5:c.83dup ENSP00000447884.1:p.Met29AspfsTer23
ENST00000551576.5:c.41dup ENSP00000455848.1:p.Met15AspfsTer23
NM_000020.2:c.41dup , LRG_543t1:c.41dup NP_000011.2:p.Met15AspfsTer23
NM_001077401.1:c.41dup NP_001070869.1:p.Met15AspfsTer23
XM_005269235.2:c.41dup XP_005269292.1:p.Met15AspfsTer23
XM_011539008.1:c.83dup XP_011537310.1:p.Met29AspfsTer23
NM_000020.3:c.41dup MANE Select NP_000011.2:p.Met15AspfsTer23
NM_001077401.2:c.41dup NP_001070869.1:p.Met15AspfsTer23