Canonical Allele Identifier: CA2649105968
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

gnomAD v4: 1-171635856-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635856_171635857insA , CM000663.2:g.171635856_171635857insA GRCh38
NC_000001.10:g.171604996_171604997insA , CM000663.1:g.171604996_171604997insA GRCh37
NC_000001.9:g.169871619_169871620insA NCBI36
NG_008859.1:g.21777_21778insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.*68_*69insT (MYOC) MANE Select ENSP00000037502.5:n.*68_*69insT
ENST00000637303.1:c.235-2774_235-2773insA (MYOCOS) ENSP00000490048.1:n.235-2774_235-2773insA
ENST00000638471.1:c.*921_*922insT (MYOC) ENSP00000491206.1:n.*921_*922insT
ENST00000037502.10:c.*68_*69insT (MYOC) ENSP00000037502.5:n.*68_*69insT
ENST00000614688.1:c.*547_*548insT (MYOC) ENSP00000478680.1:n.*547_*548insT
NM_000261.1:c.*68_*69insT (MYOC) NP_000252.1:n.*68_*69insT
NM_000261.2:c.*68_*69insT (MYOC) MANE Select NP_000252.1:n.*68_*69insT
Search 100 bp 5'
Search 100 bp 3'