Canonical Allele Identifier: CA2746620399

Gene: MYOC MYOCOS

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636408_171636409insGGTTCTTGAATGGGATGGTCAGGGTCTTGCTGATACCTGTGCCTGTGTCATAAGCAAAGTTGACGGTAGCATCTGCTGAGGTGTAGCTGCTGACGGTGTACAAGGTGCC , CM000663.2:g.171636408_171636409insGGTTCTTGAATGGGATGGTCAGGGTCTTGCTGATACCTGTGCCTGTGTCATAAGCAAAGTTGACGGTAGCATCTGCTGAGGTGTAGCTGCTGACGGTGTACAAGGTGCC	GRCh38
NC_000001.10:g.171605548_171605549insGGTTCTTGAATGGGATGGTCAGGGTCTTGCTGATACCTGTGCCTGTGTCATAAGCAAAGTTGACGGTAGCATCTGCTGAGGTGTAGCTGCTGACGGTGTACAAGGTGCC , CM000663.1:g.171605548_171605549insGGTTCTTGAATGGGATGGTCAGGGTCTTGCTGATACCTGTGCCTGTGTCATAAGCAAAGTTGACGGTAGCATCTGCTGAGGTGTAGCTGCTGACGGTGTACAAGGTGCC	GRCh37
NC_000001.9:g.169872171_169872172insGGTTCTTGAATGGGATGGTCAGGGTCTTGCTGATACCTGTGCCTGTGTCATAAGCAAAGTTGACGGTAGCATCTGCTGAGGTGTAGCTGCTGACGGTGTACAAGGTGCC	NCBI36
NG_008859.1:g.21225_21226insGGCACCTTGTACACCGTCAGCAGCTACACCTCAGCAGATGCTACCGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.1031_1032insGGCACCTTGTACACCGTCAGCAGCTACACCTCAGCAGATGCTACCGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACC (MYOC) MANE Select	ENSP00000037502.5:p.Ile345AlafsTer30
ENST00000637303.1:c.235-2222_235-2221insGGTTCTTGAATGGGATGGTCAGGGTCTTGCTGATACCTGTGCCTGTGTCATAAGCAAAGTTGACGGTAGCATCTGCTGAGGTGTAGCTGCTGACGGTGTACAAGGTGCC (MYOCOS)	ENSP00000490048.1:n.235-2222_235-2221insGGTTCTTGAATGGGATGGTCA...
ENST00000638471.1:c.*369_*370insGGCACCTTGTACACCGTCAGCAGCTACACCTCAGCAGATGCTACCGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACC (MYOC)	ENSP00000491206.1:n.*369_*370insGGCACCTTGTACACCGTCAGCAGCTACAC...
ENST00000037502.10:c.1031_1032insGGCACCTTGTACACCGTCAGCAGCTACACCTCAGCAGATGCTACCGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACC (MYOC)	ENSP00000037502.5:p.Ile345AlafsTer30
ENST00000614688.1:c.1030_1031insGGCACCTTGTACACCGTCAGCAGCTACACCTCAGCAGATGCTACCGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACC (MYOC)	ENSP00000478680.1:p.Ser344TrpfsTer21
NM_000261.1:c.1031_1032insGGCACCTTGTACACCGTCAGCAGCTACACCTCAGCAGATGCTACCGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACC (MYOC)	NP_000252.1:p.Ile345AlafsTer30
NM_000261.2:c.1031_1032insGGCACCTTGTACACCGTCAGCAGCTACACCTCAGCAGATGCTACCGTCAACTTTGCTTATGACACAGGCACAGGTATCAGCAAGACCCTGACCATCCCATTCAAGAACC (MYOC) MANE Select	NP_000252.1:p.Ile345AlafsTer30