Canonical Allele Identifier: CA2062444493
Gene: MMAB HGNC NCBI

Linked Data

dbSNP Id: rs1884017932

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557397del , CM000674.2:g.109557397del GRCh38
NC_000012.11:g.109995202del , CM000674.1:g.109995202del GRCh37
NC_000012.10:g.108479585del NCBI36
NG_007096.1:g.21104del

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.645-258del MANE Select ENSP00000445920.1:n.645-258del
ENST00000537496.5:c.*210-258del ENSP00000444793.1:n.*210-258del
ENST00000540016.5:c.489-258del ENSP00000474582.1:n.489-258del
ENST00000541763.6:c.870-258del ENSP00000474981.1:n.870-258del
ENST00000544051.5:c.*526-258del ENSP00000438079.1:n.*526-258del
ENST00000545712.6:c.645-258del ENSP00000445920.1:n.645-258del
NM_052845.3:c.645-258del NP_443077.1:n.645-258del
NR_038118.1:n.805-258del
XM_011538266.1:c.490-258del XP_011536568.1:n.490-258del
XM_011538267.1:c.490-258del XP_011536569.1:n.490-258del
XM_011538268.1:c.372-258del XP_011536570.1:n.372-258del
XM_011538269.1:c.369-258del XP_011536571.1:n.369-258del
XM_011538267.3:c.490-258del XP_011536569.1:n.490-258del
XM_011538268.2:c.372-258del XP_011536570.1:n.372-258del
XM_011538269.2:c.369-258del XP_011536571.1:n.369-258del
NM_052845.4:c.645-258del MANE Select NP_443077.1:n.645-258del
NR_038118.2:n.756-258del