Canonical Allele Identifier: CA2574087885
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

gnomAD v4: 1-171635837-CCTGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635848_171635851del , CM000663.2:g.171635848_171635851del GRCh38
NC_000001.10:g.171604988_171604991del , CM000663.1:g.171604988_171604991del GRCh37
NC_000001.9:g.169871611_169871614del NCBI36
NG_008859.1:g.21793_21796del

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.*84_*87del (MYOC) MANE Select ENSP00000037502.5:n.*84_*87del
ENST00000637303.1:c.235-2782_235-2779del (MYOCOS) ENSP00000490048.1:n.235-2782_235-2779del
ENST00000638471.1:c.*937_*940del (MYOC) ENSP00000491206.1:n.*937_*940del
ENST00000037502.10:c.*84_*87del (MYOC) ENSP00000037502.5:n.*84_*87del
ENST00000614688.1:c.*563_*566del (MYOC) ENSP00000478680.1:n.*563_*566del
NM_000261.1:c.*84_*87del (MYOC) NP_000252.1:n.*84_*87del
NM_000261.2:c.*84_*87del (MYOC) MANE Select NP_000252.1:n.*84_*87del
Search 100 bp 5'
Search 100 bp 3'