Canonical Allele Identifier: CA1139532761

Linked Data

ClinVar Variation Id: 1342963
ClinVar RCV Id: RCV001843413
dbSNP Id: rs2102944655

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636337_171636340delinsA , CM000663.2:g.171636337_171636340delinsA GRCh38
NC_000001.10:g.171605477_171605480delinsA , CM000663.1:g.171605477_171605480delinsA GRCh37
NC_000001.9:g.169872100_169872103delinsA NCBI36
NG_008859.1:g.21294_21297delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1100_1103delinsT (MYOC) MANE Select ENSP00000037502.5:p.Gly367_Gln368delinsVal
ENST00000637303.1:c.235-2293_235-2290delinsA (MYOCOS) ENSP00000490048.1:n.235-2293_235-2290delinsA
ENST00000638471.1:c.*438_*441delinsT (MYOC) ENSP00000491206.1:n.*438_*441delinsT
ENST00000037502.10:c.1100_1103delinsT (MYOC) ENSP00000037502.5:p.Gly367_Gln368delinsVal
ENST00000614688.1:c.*64_*67delinsT (MYOC) ENSP00000478680.1:n.*64_*67delinsT
NM_000261.1:c.1100_1103delinsT (MYOC) NP_000252.1:p.Gly367_Gln368delinsVal
NM_000261.2:c.1100_1103delinsT (MYOC) MANE Select NP_000252.1:p.Gly367_Gln368delinsVal