Canonical Allele Identifier: CA1474484729
Gene: MEPE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87834481_87834482delinsAT , CM000666.2:g.87834481_87834482delinsAT GRCh38
NC_000004.11:g.88755633_88755634delinsAT , CM000666.1:g.88755633_88755634delinsAT GRCh37
NC_000004.10:g.88974657_88974658delinsAT NCBI36
NG_034073.1:g.18084_18085delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000361056.4:c.-12-222_-12-221delinsAT MANE Select ENSP00000354341.3:n.-12-222_-12-221delinsAT
ENST00000424957.8:c.-12-222_-12-221delinsAT ENSP00000416984.3:n.-12-222_-12-221delinsAT
ENST00000560249.6:c.-12-222_-12-221delinsAT ENSP00000453994.2:n.-12-222_-12-221delinsAT
ENST00000361056.3:c.-12-222_-12-221delinsAT ENSP00000354341.3:n.-12-222_-12-221delinsAT
ENST00000395102.8:c.-12-222_-12-221delinsAT ENSP00000378534.4:n.-12-222_-12-221delinsAT
ENST00000424957.7:c.-12-222_-12-221delinsAT ENSP00000416984.3:n.-12-222_-12-221delinsAT
ENST00000497649.6:c.-313-222_-313-221delinsAT ENSP00000422747.1:n.-313-222_-313-221delinsAT
ENST00000508016.5:n.47-222_47-221delinsAT
ENST00000511670.5:c.-12-222_-12-221delinsAT ENSP00000421430.1:n.-12-222_-12-221delinsAT
ENST00000515821.5:n.47-222_47-221delinsAT
ENST00000540395.1:c.-479-222_-479-221delinsAT ENSP00000443491.1:n.-479-222_-479-221delinsAT
ENST00000560249.5:c.-550-222_-550-221delinsAT ENSP00000453994.1:n.-550-222_-550-221delinsAT
NM_001184694.2:c.-12-222_-12-221delinsAT NP_001171623.1:n.-12-222_-12-221delinsAT
NM_001184695.1:c.-457-222_-457-221delinsAT NP_001171624.1:n.-457-222_-457-221delinsAT
NM_001184696.1:c.-479-222_-479-221delinsAT NP_001171625.1:n.-479-222_-479-221delinsAT
NM_001184697.1:c.-550-222_-550-221delinsAT NP_001171626.1:n.-550-222_-550-221delinsAT
NM_020203.3:c.-12-222_-12-221delinsAT NP_064588.1:n.-12-222_-12-221delinsAT
XM_006714278.1:c.-12-222_-12-221delinsAT XP_006714341.1:n.-12-222_-12-221delinsAT
XM_006714278.2:c.-12-222_-12-221delinsAT XP_006714341.1:n.-12-222_-12-221delinsAT
NM_001184695.2:c.-457-222_-457-221delinsAT NP_001171624.1:n.-457-222_-457-221delinsAT
NM_020203.4:c.-12-222_-12-221delinsAT NP_064588.1:n.-12-222_-12-221delinsAT
NM_001184694.3:c.-12-222_-12-221delinsAT NP_001171623.1:n.-12-222_-12-221delinsAT
NM_001184695.4:c.-457-222_-457-221delinsAT NP_001171624.1:n.-457-222_-457-221delinsAT
NM_001184696.2:c.-479-222_-479-221delinsAT NP_001171625.1:n.-479-222_-479-221delinsAT
NM_001184697.2:c.-550-222_-550-221delinsAT NP_001171626.1:n.-550-222_-550-221delinsAT
NM_001291183.2:c.-12-222_-12-221delinsAT NP_001278112.1:n.-12-222_-12-221delinsAT
NM_020203.6:c.-12-222_-12-221delinsAT MANE Select NP_064588.1:n.-12-222_-12-221delinsAT