Canonical Allele Identifier: CA1207016606

Linked Data

dbSNP Id: rs1652900925

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635691_171635692insTGTC , CM000663.2:g.171635691_171635692insTGTC GRCh38
NC_000001.10:g.171604831_171604832insTGTC , CM000663.1:g.171604831_171604832insTGTC GRCh37
NC_000001.9:g.169871454_169871455insTGTC NCBI36
NG_008859.1:g.21944_21945insCAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.*235_*236insCAGA (MYOC) MANE Select ENSP00000037502.5:n.*235_*236insCAGA
ENST00000637303.1:c.235-2939_235-2938insTGTC (MYOCOS) ENSP00000490048.1:n.235-2939_235-2938insTGTC
ENST00000638471.1:c.*1088_*1089insCAGA (MYOC) ENSP00000491206.1:n.*1088_*1089insCAGA
ENST00000037502.10:c.*235_*236insCAGA (MYOC) ENSP00000037502.5:n.*235_*236insCAGA
ENST00000614688.1:c.*714_*715insCAGA (MYOC) ENSP00000478680.1:n.*714_*715insCAGA
NM_000261.1:c.*235_*236insCAGA (MYOC) NP_000252.1:n.*235_*236insCAGA
NM_000261.2:c.*235_*236insCAGA (MYOC) MANE Select NP_000252.1:n.*235_*236insCAGA