Canonical Allele Identifier: CA1207016927

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636648_171636654delinsAGTAATT , CM000663.2:g.171636648_171636654delinsAGTAATT GRCh38
NC_000001.10:g.171605788_171605794delinsAGTAATT , CM000663.1:g.171605788_171605794delinsAGTAATT GRCh37
NC_000001.9:g.169872411_169872417delinsAGTAATT NCBI36
NG_008859.1:g.20980_20986delinsAATTACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.786_792delinsAATTACT (MYOC) MANE Select ENSP00000037502.5:p.Thr262=
ENST00000637303.1:c.235-1982_235-1976delinsAGTAATT (MYOCOS) ENSP00000490048.1:n.235-1982_235-1976delinsAGTAATT
ENST00000638471.1:c.*124_*130delinsAATTACT (MYOC) ENSP00000491206.1:n.*124_*130delinsAATTACT
ENST00000037502.10:c.786_792delinsAATTACT (MYOC) ENSP00000037502.5:p.Thr262=
ENST00000614688.1:c.786_792delinsAATTACT (MYOC) ENSP00000478680.1:p.Thr262=
NM_000261.1:c.786_792delinsAATTACT (MYOC) NP_000252.1:p.Thr262=
NM_000261.2:c.786_792delinsAATTACT (MYOC) MANE Select NP_000252.1:p.Thr262=