Canonical Allele Identifier: CA2684112445
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v4: 7-100646596-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646599del , CM000669.2:g.100646599del GRCh38
NC_000007.13:g.100244222del , CM000669.1:g.100244222del GRCh37
NC_000007.12:g.100082158del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1067del MANE Select ENSP00000160382.5:p.Gly356AlafsTer20
ENST00000160382.9:c.1067del ENSP00000160382.5:p.Gly356AlafsTer20
ENST00000487125.1:n.629del
NM_016188.4:c.1067del NP_057272.1:p.Gly356AlafsTer20
XR_927476.1:n.1174del
NR_134539.1:n.1174del
NM_016188.5:c.1067del MANE Select NP_057272.1:p.Gly356AlafsTer20
NR_134539.2:n.1161del
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