Canonical Allele Identifier: CA1105051689
Gene: ACTL6B HGNC NCBI

Linked Data

gnomAD v3: 7-100647169-C-CCAA
gnomAD v4: 7-100647169-C-CCAA
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100647169_100647170insCAA , CM000669.2:g.100647169_100647170insCAA GRCh38
NC_000007.13:g.100244792_100244793insCAA , CM000669.1:g.100244792_100244793insCAA GRCh37
NC_000007.12:g.100082728_100082729insCAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000160382.10:c.821+53_821+54insTTG MANE Select ENSP00000160382.5:n.821+53_821+54insTTG
ENST00000160382.9:c.821+53_821+54insTTG ENSP00000160382.5:n.821+53_821+54insTTG
ENST00000487125.1:n.357+53_357+54insTTG
NM_016188.4:c.821+53_821+54insTTG NP_057272.1:n.821+53_821+54insTTG
XR_927476.1:n.928+53_928+54insTTG
NR_134539.1:n.928+53_928+54insTTG
NM_016188.5:c.821+53_821+54insTTG MANE Select NP_057272.1:n.821+53_821+54insTTG
NR_134539.2:n.915+53_915+54insTTG
Search 100 bp 5'
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