Canonical Allele Identifier: CA2586964398

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636540_171636542delinsTTT , CM000663.2:g.171636540_171636542delinsTTT GRCh38
NC_000001.10:g.171605680_171605682delinsTTT , CM000663.1:g.171605680_171605682delinsTTT GRCh37
NC_000001.9:g.169872303_169872305delinsTTT NCBI36
NG_008859.1:g.21092_21094delinsAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.898_900delinsAAA (MYOC) MANE Select ENSP00000037502.5:p.Glu300Lys
ENST00000637303.1:c.235-2090_235-2088delinsTTT (MYOCOS) ENSP00000490048.1:n.235-2090_235-2088delinsTTT
ENST00000638471.1:c.*236_*238delinsAAA (MYOC) ENSP00000491206.1:n.*236_*238delinsAAA
ENST00000037502.10:c.898_900delinsAAA (MYOC) ENSP00000037502.5:p.Glu300Lys
ENST00000614688.1:c.898_900delinsAAA (MYOC) ENSP00000478680.1:p.Glu300Lys
NM_000261.1:c.898_900delinsAAA (MYOC) NP_000252.1:p.Glu300Lys
NM_000261.2:c.898_900delinsAAA (MYOC) MANE Select NP_000252.1:p.Glu300Lys