Canonical Allele Identifier: CA2681649870
Gene: ACTB HGNC NCBI

Linked Data

gnomAD v4: 7-5528967-C-CT

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5528967_5528968insT , CM000669.2:g.5528967_5528968insT GRCh38
NC_000007.13:g.5568598_5568599insT , CM000669.1:g.5568598_5568599insT GRCh37
NC_000007.12:g.5535124_5535125insT NCBI36
NG_007992.1:g.6634_6635insA , LRG_132:g.6634_6635insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000432588.6:c.363+193_363+194insA ENSP00000407473.2:n.363+193_363+194insA
ENST00000473257.3:c.234+193_234+194insA ENSP00000501773.1:n.234+193_234+194insA
ENST00000477812.2:n.662_663insA
ENST00000484841.6:n.558+51_558+52insA
ENST00000493945.6:c.363+193_363+194insA ENSP00000494269.1:n.363+193_363+194insA
ENST00000642480.2:c.363+193_363+194insA ENSP00000495995.2:n.363+193_363+194insA
ENST00000645025.1:n.538_539insA
ENST00000645576.1:c.363+193_363+194insA ENSP00000496101.1:n.363+193_363+194insA
ENST00000646664.1:c.363+193_363+194insA MANE Select ENSP00000494750.1:n.363+193_363+194insA
ENST00000647275.1:c.-3-249_-3-248insA ENSP00000494185.1:n.-3-249_-3-248insA
ENST00000674681.1:c.363+193_363+194insA ENSP00000502821.1:n.363+193_363+194insA
ENST00000675515.1:c.363+193_363+194insA ENSP00000501862.1:n.363+193_363+194insA
ENST00000676189.1:c.374+182_374+183insA ENSP00000502538.1:n.374+182_374+183insA
ENST00000676319.1:c.87+603_87+604insA ENSP00000502193.1:n.87+603_87+604insA
ENST00000676397.1:c.363+193_363+194insA ENSP00000502286.1:n.363+193_363+194insA
ENST00000331789.9:c.363+193_363+194insA ENSP00000349960.4:n.363+193_363+194insA
ENST00000425660.5:c.*26+51_*26+52insA ENSP00000409264.1:n.*26+51_*26+52insA
ENST00000432588.5:c.363+193_363+194insA ENSP00000407473.1:n.363+193_363+194insA
ENST00000462494.5:n.640_641insA
ENST00000473257.1:n.82-249_82-248insA
ENST00000477812.1:n.570+193_570+194insA
ENST00000484841.5:n.518+193_518+194insA
ENST00000493945.5:n.369+193_369+194insA
NM_001101.3:c.363+193_363+194insA , LRG_132t1:c.363+193_363+194insA NP_001092.1:n.363+193_363+194insA
XM_006715764.1:c.-252_-251insA XP_006715827.1:n.-252_-251insA
NM_001101.4:c.363+193_363+194insA NP_001092.1:n.363+193_363+194insA
NM_001101.5:c.363+193_363+194insA MANE Select NP_001092.1:n.363+193_363+194insA