Canonical Allele Identifier: CA2578963759
Gene: ACTL6B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646585del , CM000669.2:g.100646585del GRCh38
NC_000007.13:g.100244208del , CM000669.1:g.100244208del GRCh37
NC_000007.12:g.100082144del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1080del MANE Select ENSP00000160382.5:p.Arg360SerfsTer16
ENST00000160382.9:c.1080del ENSP00000160382.5:p.Arg360SerfsTer16
ENST00000487125.1:n.642del
NM_016188.4:c.1080del NP_057272.1:p.Arg360SerfsTer16
XR_927476.1:n.1187del
NR_134539.1:n.1187del
NM_016188.5:c.1080del MANE Select NP_057272.1:p.Arg360SerfsTer16
NR_134539.2:n.1174del
Search 100 bp 5'
Search 100 bp 3'