Canonical Allele Identifier: CA2578963758
Gene: ACTL6B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646570del , CM000669.2:g.100646570del GRCh38
NC_000007.13:g.100244193del , CM000669.1:g.100244193del GRCh37
NC_000007.12:g.100082129del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1096del MANE Select ENSP00000160382.5:p.Ser366ProfsTer10
ENST00000160382.9:c.1096del ENSP00000160382.5:p.Ser366ProfsTer10
ENST00000487125.1:n.658del
NM_016188.4:c.1096del NP_057272.1:p.Ser366ProfsTer10
XR_927476.1:n.1203del
NR_134539.1:n.1203del
NM_016188.5:c.1096del MANE Select NP_057272.1:p.Ser366ProfsTer10
NR_134539.2:n.1190del
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