Canonical Allele Identifier: CA2774259221
Gene: ACTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5528401_5528402del , CM000669.2:g.5528401_5528402del GRCh38
NC_000007.13:g.5568032_5568033del , CM000669.1:g.5568032_5568033del GRCh37
NC_000007.12:g.5534558_5534559del NCBI36
NG_007992.1:g.7200_7201del , LRG_132:g.7200_7201del

Transcript Alleles

HGVS Amino-acid Change
ENST00000432588.6:c.681_682del ENSP00000407473.2:p.Met227IlefsTer17
ENST00000473257.3:c.552_553del ENSP00000501773.1:p.Met184IlefsTer17
ENST00000477812.2:n.1228_1229del
ENST00000493945.6:c.681_682del ENSP00000494269.1:p.Met227IlefsTer17
ENST00000642480.2:c.681_682del ENSP00000495995.2:p.Met227IlefsTer17
ENST00000645576.1:c.633_634del ENSP00000496101.1:p.Met211IlefsTer17
ENST00000646664.1:c.681_682del MANE Select ENSP00000494750.1:p.Met227IlefsTer17
ENST00000647275.1:c.315_316del ENSP00000494185.1:p.Met105IlefsTer17
ENST00000674681.1:c.681_682del ENSP00000502821.1:p.Met227IlefsTer17
ENST00000675515.1:c.681_682del ENSP00000501862.1:p.Met227IlefsTer17
ENST00000676189.1:c.*224_*225del ENSP00000502538.1:n.*224_*225del
ENST00000676319.1:c.88-619_88-618del ENSP00000502193.1:n.88-619_88-618del
ENST00000676397.1:c.681_682del ENSP00000502286.1:p.Met227IlefsTer17
ENST00000331789.9:c.681_682del ENSP00000349960.4:p.Met227IlefsTer17
ENST00000425660.5:c.*344_*345del ENSP00000409264.1:n.*344_*345del
ENST00000462494.5:n.1206_1207del
ENST00000473257.1:n.399_400del
ENST00000484841.5:n.836_837del
ENST00000493945.5:n.687_688del
NM_001101.3:c.681_682del , LRG_132t1:c.681_682del NP_001092.1:p.Met227IlefsTer17
XM_006715764.1:c.315_316del XP_006715827.1:p.Met105IlefsTer17
NM_001101.4:c.681_682del NP_001092.1:p.Met227IlefsTer17
NM_001101.5:c.681_682del MANE Select NP_001092.1:p.Met227IlefsTer17