Canonical Allele Identifier: CA2575285354
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109556932del , CM000674.2:g.109556932del GRCh38
NC_000012.11:g.109994737del , CM000674.1:g.109994737del GRCh37
NC_000012.10:g.108479120del NCBI36
NG_007096.1:g.21568del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.*98del MANE Select ENSP00000445920.1:n.*98del
ENST00000537496.5:c.*416del ENSP00000444793.1:n.*416del
ENST00000540016.5:c.*98del ENSP00000474582.1:n.*98del
ENST00000541763.6:c.1076del ENSP00000474981.1:n.1076del
ENST00000544051.5:c.*732del ENSP00000438079.1:n.*732del
ENST00000545712.6:c.*98del ENSP00000445920.1:n.*98del
NM_052845.3:c.*98del NP_443077.1:n.*98del
NR_038118.1:n.1011del
XM_011538266.1:c.*198del XP_011536568.1:n.*198del
XM_011538267.1:c.*198del XP_011536569.1:n.*198del
XM_011538268.1:c.*98del XP_011536570.1:n.*98del
XM_011538269.1:c.*98del XP_011536571.1:n.*98del
XM_011538267.3:c.*198del XP_011536569.1:n.*198del
XM_011538268.2:c.*98del XP_011536570.1:n.*98del
XM_011538269.2:c.*98del XP_011536571.1:n.*98del
NM_052845.4:c.*98del MANE Select NP_443077.1:n.*98del
NR_038118.2:n.962del