Canonical Allele Identifier: CA2684113154
Gene: ACTL6B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647159del , CM000669.2:g.100647159del GRCh38
NC_000007.13:g.100244782del , CM000669.1:g.100244782del GRCh37
NC_000007.12:g.100082718del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.822-69del MANE Select ENSP00000160382.5:n.822-69del
ENST00000160382.9:c.822-69del ENSP00000160382.5:n.822-69del
ENST00000487125.1:n.358-43del
NM_016188.4:c.822-69del NP_057272.1:n.822-69del
XR_927476.1:n.929-69del
NR_134539.1:n.929-69del
NM_016188.5:c.822-69del MANE Select NP_057272.1:n.822-69del
NR_134539.2:n.916-69del