Canonical Allele Identifier: CA10625297
Gene: MEF2C HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.88883262del , CM000667.2:g.88883262del GRCh38
NC_000005.9:g.88179079del , CM000667.1:g.88179079del GRCh37
NC_000005.8:g.88214835del NCBI36
NG_023427.1:g.25852del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636061.1:n.61-255del
ENST00000636998.1:c.-184-255del ENSP00000490630.1:n.-184-255del
ENST00000637663.1:n.347-255del
ENST00000340208.9:c.-143+4248del ENSP00000340874.5:n.-143+4248del
ENST00000424173.6:c.-143+4248del ENSP00000389610.2:n.-143+4248del
ENST00000437473.6:c.-439del ENSP00000396219.2:n.-439del
ENST00000502983.5:c.-143+1235del ENSP00000427163.1:n.-143+1235del
ENST00000504921.6:c.-442del ENSP00000421925.4:n.-442del
ENST00000515093.1:n.371+4248del
ENST00000625674.2:c.-140+4248del ENSP00000487430.1:n.-140+4248del
ENST00000627659.2:c.-140+4248del ENSP00000486490.1:n.-140+4248del
ENST00000629612.2:c.-140+4248del ENSP00000486554.1:n.-140+4248del
NM_001131005.2:c.-143+4248del NP_001124477.1:n.-143+4248del
NM_001193347.1:c.-143+4248del NP_001180276.1:n.-143+4248del
NM_001193350.1:c.-439del NP_001180279.1:n.-439del
NM_002397.4:c.-442del NP_002388.2:n.-442del
XM_005248511.1:c.-143+1235del XP_005248568.1:n.-143+1235del
XM_006714618.1:c.-140+4248del XP_006714681.1:n.-140+4248del
XM_006714619.1:c.-140+4248del XP_006714682.1:n.-140+4248del
XM_011543396.1:c.-143+4248del XP_011541698.1:n.-143+4248del
NM_001364329.1:c.-140+4248del NP_001351258.1:n.-140+4248del
NM_001364330.1:c.-143+4248del NP_001351259.1:n.-143+4248del
NM_001364334.1:c.-140+4248del NP_001351263.1:n.-140+4248del
NM_001364335.1:c.-143+1235del NP_001351264.1:n.-143+1235del
NM_001364345.1:c.-143+1235del NP_001351274.1:n.-143+1235del
XM_005248511.3:c.-143+1235del XP_005248568.1:n.-143+1235del
XM_011543396.3:c.-143+4248del XP_011541698.1:n.-143+4248del
XM_024446057.1:c.-541del XP_024301825.1:n.-541del
NM_001364329.2:c.-140+4248del NP_001351258.1:n.-140+4248del
NM_001364330.2:c.-143+4248del NP_001351259.1:n.-143+4248del
NM_001364345.2:c.-143+1235del NP_001351274.1:n.-143+1235del
NM_001364334.2:c.-140+4248del NP_001351263.1:n.-140+4248del
NM_001364335.2:c.-143+1235del NP_001351264.1:n.-143+1235del