Canonical Allele Identifier: CA1207016803
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636287_171636288delinsCA , CM000663.2:g.171636287_171636288delinsCA GRCh38
NC_000001.10:g.171605427_171605428delinsCA , CM000663.1:g.171605427_171605428delinsCA GRCh37
NC_000001.9:g.169872050_169872051delinsCA NCBI36
NG_008859.1:g.21346_21347delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.1152_1153delinsTG (MYOC) MANE Select ENSP00000037502.5:p.Asp384=
ENST00000637303.1:c.235-2343_235-2342delinsCA (MYOCOS) ENSP00000490048.1:n.235-2343_235-2342delinsCA
ENST00000638471.1:c.*490_*491delinsTG (MYOC) ENSP00000491206.1:n.*490_*491delinsTG
ENST00000037502.10:c.1152_1153delinsTG (MYOC) ENSP00000037502.5:p.Asp384=
ENST00000614688.1:c.*116_*117delinsTG (MYOC) ENSP00000478680.1:n.*116_*117delinsTG
NM_000261.1:c.1152_1153delinsTG (MYOC) NP_000252.1:p.Asp384=
NM_000261.2:c.1152_1153delinsTG (MYOC) MANE Select NP_000252.1:p.Asp384=
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