Canonical Allele Identifier: CA2062444272
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557207_109557208delinsCA , CM000674.2:g.109557207_109557208delinsCA GRCh38
NC_000012.11:g.109995012_109995013delinsCA , CM000674.1:g.109995012_109995013delinsCA GRCh37
NC_000012.10:g.108479395_108479396delinsCA NCBI36
NG_007096.1:g.21290_21291delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.645-72_645-71delinsTG MANE Select ENSP00000445920.1:n.645-72_645-71delinsTG
ENST00000537496.5:c.*210-72_*210-71delinsTG ENSP00000444793.1:n.*210-72_*210-71delinsTG
ENST00000540016.5:c.489-72_489-71delinsTG ENSP00000474582.1:n.489-72_489-71delinsTG
ENST00000541763.6:c.870-72_870-71delinsTG ENSP00000474981.1:n.870-72_870-71delinsTG
ENST00000544051.5:c.*526-72_*526-71delinsTG ENSP00000438079.1:n.*526-72_*526-71delinsTG
ENST00000545712.6:c.645-72_645-71delinsTG ENSP00000445920.1:n.645-72_645-71delinsTG
NM_052845.3:c.645-72_645-71delinsTG NP_443077.1:n.645-72_645-71delinsTG
NR_038118.1:n.805-72_805-71delinsTG
XM_011538266.1:c.490-72_490-71delinsTG XP_011536568.1:n.490-72_490-71delinsTG
XM_011538267.1:c.490-72_490-71delinsTG XP_011536569.1:n.490-72_490-71delinsTG
XM_011538268.1:c.372-72_372-71delinsTG XP_011536570.1:n.372-72_372-71delinsTG
XM_011538269.1:c.369-72_369-71delinsTG XP_011536571.1:n.369-72_369-71delinsTG
XM_011538267.3:c.490-72_490-71delinsTG XP_011536569.1:n.490-72_490-71delinsTG
XM_011538268.2:c.372-72_372-71delinsTG XP_011536570.1:n.372-72_372-71delinsTG
XM_011538269.2:c.369-72_369-71delinsTG XP_011536571.1:n.369-72_369-71delinsTG
NM_052845.4:c.645-72_645-71delinsTG MANE Select NP_443077.1:n.645-72_645-71delinsTG
NR_038118.2:n.756-72_756-71delinsTG