Canonical Allele Identifier: CA2684112473
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v4: 7-100646613-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100646616del , CM000669.2:g.100646616del GRCh38
NC_000007.13:g.100244239del , CM000669.1:g.100244239del GRCh37
NC_000007.12:g.100082175del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.1050del MANE Select ENSP00000160382.5:p.Asn351ThrfsTer25
ENST00000160382.9:c.1050del ENSP00000160382.5:p.Asn351ThrfsTer25
ENST00000487125.1:n.612del
NM_016188.4:c.1050del NP_057272.1:p.Asn351ThrfsTer25
XR_927476.1:n.1157del
NR_134539.1:n.1157del
NM_016188.5:c.1050del MANE Select NP_057272.1:p.Asn351ThrfsTer25
NR_134539.2:n.1144del
Search 100 bp 5'
Search 100 bp 3'