Canonical Allele Identifier: CA1139654950

Linked Data

ClinVar Variation Id: 1342966
ClinVar RCV Id: RCV001843416
dbSNP Id: rs2102944613

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636254_171636255insTGGGTC , CM000663.2:g.171636254_171636255insTGGGTC GRCh38
NC_000001.10:g.171605394_171605395insTGGGTC , CM000663.1:g.171605394_171605395insTGGGTC GRCh37
NC_000001.9:g.169872017_169872018insTGGGTC NCBI36
NG_008859.1:g.21381_21382insCCCAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1187_1188insCCCAGA (MYOC) MANE Select ENSP00000037502.5:p.Asp395_Glu396insAspPro
ENST00000637303.1:c.235-2376_235-2375insTGGGTC (MYOCOS) ENSP00000490048.1:n.235-2376_235-2375insTGGGTC
ENST00000638471.1:c.*525_*526insCCCAGA (MYOC) ENSP00000491206.1:n.*525_*526insCCCAGA
ENST00000037502.10:c.1187_1188insCCCAGA (MYOC) ENSP00000037502.5:p.Asp395_Glu396insAspPro
ENST00000614688.1:c.*151_*152insCCCAGA (MYOC) ENSP00000478680.1:n.*151_*152insCCCAGA
NM_000261.1:c.1187_1188insCCCAGA (MYOC) NP_000252.1:p.Asp395_Glu396insAspPro
NM_000261.2:c.1187_1188insCCCAGA (MYOC) MANE Select NP_000252.1:p.Asp395_Glu396insAspPro