Canonical Allele Identifier: CA2618861648
Gene: ACVRL1 HGNC NCBI

Linked Data

gnomAD v4: 12-51920943-G-GGGGGGGGGGGGGGGGGGGGGGCCCCCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCGG , CM000674.2:g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCGG GRCh38
NC_000012.11:g.52314729_52314730insGGGGGGGGGGGGGGGGGGGCCCCCCGG , CM000674.1:g.52314729_52314730insGGGGGGGGGGGGGGGGGGGCCCCCCGG GRCh37
NC_000012.10:g.50600996_50600997insGGGGGGGGGGGGGGGGGGGCCCCCCGG NCBI36
NG_009549.1:g.18528_18529insGGGGGGGGGGGGGGGGGGGCCCCCCGG , LRG_543:g.18528_18529insGGGGGGGGGGGGGGGGGGGCCCCCCGG

Transcript Alleles

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