Canonical Allele Identifier: CA2649105955
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

gnomAD v4: 1-171635839-T-TGGCG
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635842_171635843insGGGC , CM000663.2:g.171635842_171635843insGGGC GRCh38
NC_000001.10:g.171604982_171604983insGGGC , CM000663.1:g.171604982_171604983insGGGC GRCh37
NC_000001.9:g.169871605_169871606insGGGC NCBI36
NG_008859.1:g.21794_21795insCGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.*85_*86insCGCC (MYOC) MANE Select ENSP00000037502.5:n.*85_*86insCGCC
ENST00000637303.1:c.235-2788_235-2787insGGGC (MYOCOS) ENSP00000490048.1:n.235-2788_235-2787insGGGC
ENST00000638471.1:c.*938_*939insCGCC (MYOC) ENSP00000491206.1:n.*938_*939insCGCC
ENST00000037502.10:c.*85_*86insCGCC (MYOC) ENSP00000037502.5:n.*85_*86insCGCC
ENST00000614688.1:c.*564_*565insCGCC (MYOC) ENSP00000478680.1:n.*564_*565insCGCC
NM_000261.1:c.*85_*86insCGCC (MYOC) NP_000252.1:n.*85_*86insCGCC
NM_000261.2:c.*85_*86insCGCC (MYOC) MANE Select NP_000252.1:n.*85_*86insCGCC
Search 100 bp 5'
Search 100 bp 3'