Canonical Allele Identifier: CA2649106004

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636711_171636712insCGGTTCTTGAATGGGATGGTCAGGGTCTTGCTGATACCTGTGCCTGTGTCATAAGCAAAGTTGAC , CM000663.2:g.171636711_171636712insCGGTTCTTGAATGGGATGGTCAGGGTCTTGCTGATACCTGTGCCTGTGTCATAAGCAAAGTTGAC GRCh38
NC_000001.10:g.171605851_171605852insCGGTTCTTGAATGGGATGGTCAGGGTCTTGCTGATACCTGTGCCTGTGTCATAAGCAAAGTTGAC , CM000663.1:g.171605851_171605852insCGGTTCTTGAATGGGATGGTCAGGGTCTTGCTGATACCTGTGCCTGTGTCATAAGCAAAGTTGAC GRCh37
NC_000001.9:g.169872474_169872475insCGGTTCTTGAATGGGATGGTCAGGGTCTTGCTGATACCTGTGCCTGTGTCATAAGCAAAGTTGAC NCBI36
NG_008859.1:g.20922_20923insGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.731-3_731-2insGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACCG (MYOC) MANE Select ENSP00000037502.5:n.731-3_731-2insGTCAACTTTGCTTATGACACAGGCACA...
ENST00000637303.1:c.235-1919_235-1918insCGGTTCTTGAATGGGATGGTCAGGGTCTTGCTGATACCTGTGCCTGTGTCATAAGCAAAGTTGAC (MYOCOS) ENSP00000490048.1:n.235-1919_235-1918insCGGTTCTTGAATGGGATGGTC...
ENST00000638471.1:c.*69-3_*69-2insGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACCG (MYOC) ENSP00000491206.1:n.*69-3_*69-2insGTCAACTTTGCTTATGACACAGGCACA...
ENST00000037502.10:c.731-3_731-2insGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACCG (MYOC) ENSP00000037502.5:n.731-3_731-2insGTCAACTTTGCTTATGACACAGGCACA...
ENST00000614688.1:c.731-3_731-2insGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACCG (MYOC) ENSP00000478680.1:n.731-3_731-2insGTCAACTTTGCTTATGACACAGGCACA...
NM_000261.1:c.731-3_731-2insGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACCG (MYOC) NP_000252.1:n.731-3_731-2insGTCAACTTTGCTTATGACACAGGCACAGGTATC...
NM_000261.2:c.731-3_731-2insGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACCG (MYOC) MANE Select NP_000252.1:n.731-3_731-2insGTCAACTTTGCTTATGACACAGGCACAGGTATC...