Canonical Allele Identifier: CA1207016782

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636205_171636206delinsTC , CM000663.2:g.171636205_171636206delinsTC GRCh38
NC_000001.10:g.171605345_171605346delinsTC , CM000663.1:g.171605345_171605346delinsTC GRCh37
NC_000001.9:g.169871968_169871969delinsTC NCBI36
NG_008859.1:g.21428_21429delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1234_1235delinsGA (MYOC) MANE Select ENSP00000037502.5:p.Glu412=
ENST00000637303.1:c.235-2425_235-2424delinsTC (MYOCOS) ENSP00000490048.1:n.235-2425_235-2424delinsTC
ENST00000638471.1:c.*572_*573delinsGA (MYOC) ENSP00000491206.1:n.*572_*573delinsGA
ENST00000037502.10:c.1234_1235delinsGA (MYOC) ENSP00000037502.5:p.Glu412=
ENST00000614688.1:c.*198_*199delinsGA (MYOC) ENSP00000478680.1:n.*198_*199delinsGA
NM_000261.1:c.1234_1235delinsGA (MYOC) NP_000252.1:p.Glu412=
NM_000261.2:c.1234_1235delinsGA (MYOC) MANE Select NP_000252.1:p.Glu412=