Canonical Allele Identifier: CA1009130152
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs1652904400
gnomAD v3: 1-171635840-GGC-G
gnomAD v4: 1-171635840-GGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635841_171635842del , CM000663.2:g.171635841_171635842del GRCh38
NC_000001.10:g.171604981_171604982del , CM000663.1:g.171604981_171604982del GRCh37
NC_000001.9:g.169871604_169871605del NCBI36
NG_008859.1:g.21792_21793del

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.*83_*84del (MYOC) MANE Select ENSP00000037502.5:n.*83_*84del
ENST00000637303.1:c.235-2789_235-2788del (MYOCOS) ENSP00000490048.1:n.235-2789_235-2788del
ENST00000638471.1:c.*936_*937del (MYOC) ENSP00000491206.1:n.*936_*937del
ENST00000037502.10:c.*83_*84del (MYOC) ENSP00000037502.5:n.*83_*84del
ENST00000614688.1:c.*562_*563del (MYOC) ENSP00000478680.1:n.*562_*563del
NM_000261.1:c.*83_*84del (MYOC) NP_000252.1:n.*83_*84del
NM_000261.2:c.*83_*84del (MYOC) MANE Select NP_000252.1:n.*83_*84del
Search 100 bp 5'
Search 100 bp 3'