Canonical Allele Identifier: CA576714441
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs1165013658
gnomAD v2: 7-100244567-AC-A
gnomAD v4: 7-100646944-AC-A
MyVariant Identifiers: chr7:g.100244568del (hg19) chr7:g.100646945del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646948del , CM000669.2:g.100646948del GRCh38
NC_000007.13:g.100244571del , CM000669.1:g.100244571del GRCh37
NC_000007.12:g.100082507del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000160382.10:c.936+26del MANE Select ENSP00000160382.5:n.936+26del
ENST00000160382.9:c.936+26del ENSP00000160382.5:n.936+26del
ENST00000487125.1:n.498+26del
NM_016188.4:c.936+26del NP_057272.1:n.936+26del
XR_927476.1:n.1043+26del
NR_134539.1:n.1043+26del
NM_016188.5:c.936+26del MANE Select NP_057272.1:n.936+26del
NR_134539.2:n.1030+26del
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