Canonical Allele Identifier: CA2618861401
Gene: ACVRL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGGG , CM000674.2:g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGGG GRCh38
NC_000012.11:g.52314729_52314730insGGGGGGGGGGGGGGGGGGCGGG , CM000674.1:g.52314729_52314730insGGGGGGGGGGGGGGGGGGCGGG GRCh37
NC_000012.10:g.50600996_50600997insGGGGGGGGGGGGGGGGGGCGGG NCBI36
NG_009549.1:g.18528_18529insGGGGGGGGGGGGGGGGGGCGGG , LRG_543:g.18528_18529insGGGGGGGGGGGGGGGGGGCGGG

Transcript Alleles

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