Canonical Allele Identifier: CA2649105995
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

gnomAD v4: 1-171635988-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635990del , CM000663.2:g.171635990del GRCh38
NC_000001.10:g.171605130del , CM000663.1:g.171605130del GRCh37
NC_000001.9:g.169871753del NCBI36
NG_008859.1:g.21645del

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.1451del (MYOC) MANE Select ENSP00000037502.5:p.Lys484ArgfsTer9
ENST00000637303.1:c.235-2640del (MYOCOS) ENSP00000490048.1:n.235-2640del
ENST00000638471.1:c.*789del (MYOC) ENSP00000491206.1:n.*789del
ENST00000037502.10:c.1451del (MYOC) ENSP00000037502.5:p.Lys484ArgfsTer9
ENST00000614688.1:c.*415del (MYOC) ENSP00000478680.1:n.*415del
NM_000261.1:c.1451del (MYOC) NP_000252.1:p.Lys484ArgfsTer9
NM_000261.2:c.1451del (MYOC) MANE Select NP_000252.1:p.Lys484ArgfsTer9
Search 100 bp 5'
Search 100 bp 3'