Canonical Allele Identifier: CA830508451
Gene: ACTL6B HGNC NCBI

Linked Data

dbSNP Id: rs1304666461
gnomAD v3: 7-100647423-T-TG
gnomAD v4: 7-100647423-T-TG
MyVariant Identifiers: chr7:g.100245046_100245047insG (hg19) chr7:g.100647423_100647424insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647425dup , CM000669.2:g.100647425dup GRCh38
NC_000007.13:g.100245048dup , CM000669.1:g.100245048dup GRCh37
NC_000007.12:g.100082984dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.759+20dup MANE Select ENSP00000160382.5:n.759+20dup
ENST00000160382.9:c.759+20dup ENSP00000160382.5:n.759+20dup
ENST00000487125.1:n.295+20dup
NM_016188.4:c.759+20dup NP_057272.1:n.759+20dup
XR_927476.1:n.866+20dup
NR_134539.1:n.866+20dup
NM_016188.5:c.759+20dup MANE Select NP_057272.1:n.759+20dup
NR_134539.2:n.853+20dup
Search 100 bp 5'
Search 100 bp 3'