Canonical Allele Identifier: CA2620810036
Gene: MMAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109556983_109556992del , CM000674.2:g.109556983_109556992del GRCh38
NC_000012.11:g.109994788_109994797del , CM000674.1:g.109994788_109994797del GRCh37
NC_000012.10:g.108479171_108479180del NCBI36
NG_007096.1:g.21506_21515del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.*36_*45del MANE Select ENSP00000445920.1:n.*36_*45del
ENST00000537496.5:c.*354_*363del ENSP00000444793.1:n.*354_*363del
ENST00000540016.5:c.*36_*45del ENSP00000474582.1:n.*36_*45del
ENST00000541763.6:c.1014_1023del ENSP00000474981.1:n.1014_1023del
ENST00000544051.5:c.*670_*679del ENSP00000438079.1:n.*670_*679del
ENST00000545712.6:c.*36_*45del ENSP00000445920.1:n.*36_*45del
NM_052845.3:c.*36_*45del NP_443077.1:n.*36_*45del
NR_038118.1:n.949_958del
XM_011538266.1:c.*136_*145del XP_011536568.1:n.*136_*145del
XM_011538267.1:c.*136_*145del XP_011536569.1:n.*136_*145del
XM_011538268.1:c.*36_*45del XP_011536570.1:n.*36_*45del
XM_011538269.1:c.*36_*45del XP_011536571.1:n.*36_*45del
XM_011538267.3:c.*136_*145del XP_011536569.1:n.*136_*145del
XM_011538268.2:c.*36_*45del XP_011536570.1:n.*36_*45del
XM_011538269.2:c.*36_*45del XP_011536571.1:n.*36_*45del
NM_052845.4:c.*36_*45del MANE Select NP_443077.1:n.*36_*45del
NR_038118.2:n.900_909del