Canonical Allele Identifier: CA2659522570
Gene: MCEE HGNC NCBI

Linked Data

gnomAD v4: 2-71124218-GTGAT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71124219_71124222del , CM000664.2:g.71124219_71124222del GRCh38
NC_000002.11:g.71351349_71351352del , CM000664.1:g.71351349_71351352del GRCh37
NC_000002.10:g.71204857_71204860del NCBI36
NG_008977.1:g.11043_11046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000244217.6:c.362_365del MANE Select ENSP00000244217.5:p.His121ProfsTer13
ENST00000244217.5:c.362_365del ENSP00000244217.5:p.His121ProfsTer13
ENST00000413592.5:c.84+146_84+149del ENSP00000391140.1:n.84+146_84+149del
ENST00000486135.1:c.77_80del ENSP00000441569.1:p.His26ProfsTer?
ENST00000494660.6:c.77_80del ENSP00000437361.1:p.His26ProfsTer?
NM_032601.3:c.362_365del NP_115990.3:p.His121ProfsTer13
XM_005264613.2:c.216+146_216+149del XP_005264670.1:n.216+146_216+149del
XR_939729.1:n.431_434del
XR_939729.2:n.431_434del
NM_032601.4:c.362_365del MANE Select NP_115990.3:p.His121ProfsTer13
Search 100 bp 5'
Search 100 bp 3'