Canonical Allele Identifier: CA2618861433
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG , CM000674.2:g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG GRCh38
NC_000012.11:g.52314729_52314730insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG , CM000674.1:g.52314729_52314730insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG GRCh37
NC_000012.10:g.50600996_50600997insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG NCBI36
NG_009549.1:g.18528_18529insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG , LRG_543:g.18528_18529insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG ENSP00000455848.2:n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG...
ENST00000388922.9:c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG MANE Select ENSP00000373574.4:n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG...
ENST00000388922.8:c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG ENSP00000373574.4:n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG...
ENST00000419526.6:c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG ENSP00000392492.2:n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG...
ENST00000550683.5:c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG ENSP00000447884.1:n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG...
NM_000020.2:c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG , LRG_543t1:c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG NP_000011.2:n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG
NM_001077401.1:c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG NP_001070869.1:n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG
XM_005269235.2:c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG XP_005269292.1:n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG
XM_011539008.1:c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG XP_011537310.1:n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG
XM_024449279.1:c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG XP_024305047.1:n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG
NM_000020.3:c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG MANE Select NP_000011.2:n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG
NM_001077401.2:c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG NP_001070869.1:n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG