Canonical Allele Identifier: CA2684113182
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v4: 7-100647161-GCCCACCCCAAGAGTGCCGGTTCTGCCCTCTCT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647172_100647203del , CM000669.2:g.100647172_100647203del GRCh38
NC_000007.13:g.100244795_100244826del , CM000669.1:g.100244795_100244826del GRCh37
NC_000007.12:g.100082731_100082762del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.821+30_821+61del MANE Select ENSP00000160382.5:n.821+30_821+61del
ENST00000160382.9:c.821+30_821+61del ENSP00000160382.5:n.821+30_821+61del
ENST00000487125.1:n.357+30_358-51del
NM_016188.4:c.821+30_821+61del NP_057272.1:n.821+30_821+61del
XR_927476.1:n.928+30_928+61del
NR_134539.1:n.928+30_928+61del
NM_016188.5:c.821+30_821+61del MANE Select NP_057272.1:n.821+30_821+61del
NR_134539.2:n.915+30_915+61del
Search 100 bp 5'
Search 100 bp 3'