Canonical Allele Identifier: CA2618861050
Gene: ACVRL1 HGNC NCBI

Linked Data

gnomAD v4: 12-51920939-T-TGGGGGGCGGGGGGGGGGGGGGGGGGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51920946_51920947insGGGGGGGGGGGGGGGGGGGGGGGGGGC , CM000674.2:g.51920946_51920947insGGGGGGGGGGGGGGGGGGGGGGGGGGC GRCh38
NC_000012.11:g.52314730_52314731insGGGGGGGGGGGGGGGGGGGGGGGGGGC , CM000674.1:g.52314730_52314731insGGGGGGGGGGGGGGGGGGGGGGGGGGC GRCh37
NC_000012.10:g.50600997_50600998insGGGGGGGGGGGGGGGGGGGGGGGGGGC NCBI36
NG_009549.1:g.18529_18530insGGGGGGGGGGGGGGGGGGGGGGGGGGC , LRG_543:g.18529_18530insGGGGGGGGGGGGGGGGGGGGGGGGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000551576.6:c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC ENSP00000455848.2:n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC
ENST00000388922.9:c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC MANE Select ENSP00000373574.4:n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC
ENST00000388922.8:c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC ENSP00000373574.4:n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC
ENST00000419526.6:c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC ENSP00000392492.2:n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC
ENST00000550683.5:c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC ENSP00000447884.1:n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC
NM_000020.2:c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC , LRG_543t1:c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC NP_000011.2:n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC
NM_001077401.1:c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC NP_001070869.1:n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC
XM_005269235.2:c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC XP_005269292.1:n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC
XM_011539008.1:c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC XP_011537310.1:n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC
XM_024449279.1:c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC XP_024305047.1:n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC
NM_000020.3:c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC MANE Select NP_000011.2:n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC
NM_001077401.2:c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC NP_001070869.1:n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC
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