Canonical Allele Identifier: CA1474484685
Gene: MEPE HGNC NCBI

Linked Data

dbSNP Id: rs1722700499

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87834363_87834366del , CM000666.2:g.87834363_87834366del GRCh38
NC_000004.11:g.88755515_88755518del , CM000666.1:g.88755515_88755518del GRCh37
NC_000004.10:g.88974539_88974542del NCBI36
NG_034073.1:g.17966_17969del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361056.4:c.-12-340_-12-337del MANE Select ENSP00000354341.3:n.-12-340_-12-337del
ENST00000424957.8:c.-12-340_-12-337del ENSP00000416984.3:n.-12-340_-12-337del
ENST00000560249.6:c.-12-340_-12-337del ENSP00000453994.2:n.-12-340_-12-337del
ENST00000361056.3:c.-12-340_-12-337del ENSP00000354341.3:n.-12-340_-12-337del
ENST00000395102.8:c.-12-340_-12-337del ENSP00000378534.4:n.-12-340_-12-337del
ENST00000424957.7:c.-12-340_-12-337del ENSP00000416984.3:n.-12-340_-12-337del
ENST00000497649.6:c.-313-340_-313-337del ENSP00000422747.1:n.-313-340_-313-337del
ENST00000508016.5:n.47-340_47-337del
ENST00000511670.5:c.-12-340_-12-337del ENSP00000421430.1:n.-12-340_-12-337del
ENST00000515821.5:n.47-340_47-337del
ENST00000540395.1:c.-479-340_-479-337del ENSP00000443491.1:n.-479-340_-479-337del
ENST00000560249.5:c.-550-340_-550-337del ENSP00000453994.1:n.-550-340_-550-337del
NM_001184694.2:c.-12-340_-12-337del NP_001171623.1:n.-12-340_-12-337del
NM_001184695.1:c.-457-340_-457-337del NP_001171624.1:n.-457-340_-457-337del
NM_001184696.1:c.-479-340_-479-337del NP_001171625.1:n.-479-340_-479-337del
NM_001184697.1:c.-550-340_-550-337del NP_001171626.1:n.-550-340_-550-337del
NM_020203.3:c.-12-340_-12-337del NP_064588.1:n.-12-340_-12-337del
XM_006714278.1:c.-12-340_-12-337del XP_006714341.1:n.-12-340_-12-337del
XM_006714278.2:c.-12-340_-12-337del XP_006714341.1:n.-12-340_-12-337del
NM_001184695.2:c.-457-340_-457-337del NP_001171624.1:n.-457-340_-457-337del
NM_020203.4:c.-12-340_-12-337del NP_064588.1:n.-12-340_-12-337del
NM_001184694.3:c.-12-340_-12-337del NP_001171623.1:n.-12-340_-12-337del
NM_001184695.4:c.-457-340_-457-337del NP_001171624.1:n.-457-340_-457-337del
NM_001184696.2:c.-479-340_-479-337del NP_001171625.1:n.-479-340_-479-337del
NM_001184697.2:c.-550-340_-550-337del NP_001171626.1:n.-550-340_-550-337del
NM_001291183.2:c.-12-340_-12-337del NP_001278112.1:n.-12-340_-12-337del
NM_020203.6:c.-12-340_-12-337del MANE Select NP_064588.1:n.-12-340_-12-337del