Canonical Allele Identifier: CA2746620444

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636689_171636696del , CM000663.2:g.171636689_171636696del GRCh38
NC_000001.10:g.171605829_171605836del , CM000663.1:g.171605829_171605836del GRCh37
NC_000001.9:g.169872452_169872459del NCBI36
NG_008859.1:g.20938_20945del

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.744_751del (MYOC) MANE Select ENSP00000037502.5:p.Val249ArgfsTer?
ENST00000637303.1:c.235-1941_235-1934del (MYOCOS) ENSP00000490048.1:n.235-1941_235-1934del
ENST00000638471.1:c.*82_*89del (MYOC) ENSP00000491206.1:n.*82_*89del
ENST00000037502.10:c.744_751del (MYOC) ENSP00000037502.5:p.Val249ArgfsTer?
ENST00000614688.1:c.744_751del (MYOC) ENSP00000478680.1:p.Val249ArgfsTer?
NM_000261.1:c.744_751del (MYOC) NP_000252.1:p.Val249ArgfsTer?
NM_000261.2:c.744_751del (MYOC) MANE Select NP_000252.1:p.Val249ArgfsTer?