Canonical Allele Identifier: CA645529097
Gene: MCEE HGNC NCBI

Linked Data

COSMIC: COSM301422

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124377_71124378delinsAG , CM000664.2:g.71124377_71124378delinsAG GRCh38
NC_000002.11:g.71351507_71351508delinsAG , CM000664.1:g.71351507_71351508delinsAG GRCh37
NC_000002.10:g.71205015_71205016delinsAG NCBI36
NG_008977.1:g.10887_10888delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.206_207delinsCT MANE Select ENSP00000244217.5:p.Leu69Pro
ENST00000244217.5:c.206_207delinsCT ENSP00000244217.5:p.Leu69Pro
ENST00000413592.5:c.74_75delinsCT ENSP00000391140.1:p.Leu25Pro
ENST00000486135.1:c.-80_-79delinsCT ENSP00000441569.1:n.-80_-79delinsCT
ENST00000494660.6:c.-80_-79delinsCT ENSP00000437361.1:n.-80_-79delinsCT
NM_032601.3:c.206_207delinsCT NP_115990.3:p.Leu69Pro
XM_005264613.2:c.206_207delinsCT XP_005264670.1:p.Leu69Pro
XR_939729.1:n.275_276delinsCT
XR_939729.2:n.275_276delinsCT
NM_032601.4:c.206_207delinsCT MANE Select NP_115990.3:p.Leu69Pro