Canonical Allele Identifier: CA254375
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8247
ClinVar RCV Id: RCV000008731
dbSNP Id: rs387906392

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51913180_51913184delinsAGCCT , CM000674.2:g.51913180_51913184delinsAGCCT GRCh38
NC_000012.11:g.52306964_52306968delinsAGCCT , CM000674.1:g.52306964_52306968delinsAGCCT GRCh37
NC_000012.10:g.50593231_50593235delinsAGCCT NCBI36
NG_009549.1:g.10763_10767delinsAGCCT , LRG_543:g.10763_10767delinsAGCCT

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.185_189delinsAGCCT ENSP00000446724.2:p.Gly62_Ala63delinsGluP...
ENST00000551576.6:c.143_147delinsAGCCT ENSP00000455848.2:p.Gly48_Ala49delinsGluP...
ENST00000552678.2:c.143_147delinsAGCCT ENSP00000457394.2:p.Gly48_Ala49delinsGluP...
ENST00000388922.9:c.143_147delinsAGCCT MANE Select ENSP00000373574.4:p.Gly48_Ala49delinsGluP...
ENST00000388922.8:c.143_147delinsAGCCT ENSP00000373574.4:p.Gly48_Ala49delinsGluP...
ENST00000419526.6:c.103+645_103+649delinsAGCCT ENSP00000392492.2:n.103+645_103+649delins...
ENST00000547400.5:c.185_189delinsAGCCT ENSP00000446724.1:p.Gly62_Ala63delinsGluP...
ENST00000550683.5:c.185_189delinsAGCCT ENSP00000447884.1:p.Gly62_Ala63delinsGluP...
ENST00000551576.5:c.143_147delinsAGCCT ENSP00000455848.1:p.Gly48_Ala49delinsGluP...
NM_000020.2:c.143_147delinsAGCCT , LRG_543t1:c.143_147delinsAGCCT NP_000011.2:p.Gly48_Ala49delinsGluPro
NM_001077401.1:c.143_147delinsAGCCT NP_001070869.1:p.Gly48_Ala49delinsGluPro
XM_005269235.2:c.143_147delinsAGCCT XP_005269292.1:p.Gly48_Ala49delinsGluPro
XM_011539008.1:c.185_189delinsAGCCT XP_011537310.1:p.Gly62_Ala63delinsGluPro
NM_000020.3:c.143_147delinsAGCCT MANE Select NP_000011.2:p.Gly48_Ala49delinsGluPro
NM_001077401.2:c.143_147delinsAGCCT NP_001070869.1:p.Gly48_Ala49delinsGluPro