Canonical Allele Identifier: CA2062444527
Gene: MMAB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109557425_109557427delinsCTG , CM000674.2:g.109557425_109557427delinsCTG GRCh38
NC_000012.11:g.109995230_109995232delinsCTG , CM000674.1:g.109995230_109995232delinsCTG GRCh37
NC_000012.10:g.108479613_108479615delinsCTG NCBI36
NG_007096.1:g.21071_21073delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000545712.7:c.645-291_645-289delinsCAG MANE Select ENSP00000445920.1:n.645-291_645-289delinsCAG
ENST00000537496.5:c.*210-291_*210-289delinsCAG ENSP00000444793.1:n.*210-291_*210-289delinsCAG
ENST00000540016.5:c.489-291_489-289delinsCAG ENSP00000474582.1:n.489-291_489-289delinsCAG
ENST00000541763.6:c.870-291_870-289delinsCAG ENSP00000474981.1:n.870-291_870-289delinsCAG
ENST00000544051.5:c.*526-291_*526-289delinsCAG ENSP00000438079.1:n.*526-291_*526-289delinsCAG
ENST00000545712.6:c.645-291_645-289delinsCAG ENSP00000445920.1:n.645-291_645-289delinsCAG
NM_052845.3:c.645-291_645-289delinsCAG NP_443077.1:n.645-291_645-289delinsCAG
NR_038118.1:n.805-291_805-289delinsCAG
XM_011538266.1:c.490-291_490-289delinsCAG XP_011536568.1:n.490-291_490-289delinsCAG
XM_011538267.1:c.490-291_490-289delinsCAG XP_011536569.1:n.490-291_490-289delinsCAG
XM_011538268.1:c.372-291_372-289delinsCAG XP_011536570.1:n.372-291_372-289delinsCAG
XM_011538269.1:c.369-291_369-289delinsCAG XP_011536571.1:n.369-291_369-289delinsCAG
XM_011538267.3:c.490-291_490-289delinsCAG XP_011536569.1:n.490-291_490-289delinsCAG
XM_011538268.2:c.372-291_372-289delinsCAG XP_011536570.1:n.372-291_372-289delinsCAG
XM_011538269.2:c.369-291_369-289delinsCAG XP_011536571.1:n.369-291_369-289delinsCAG
NM_052845.4:c.645-291_645-289delinsCAG MANE Select NP_443077.1:n.645-291_645-289delinsCAG
NR_038118.2:n.756-291_756-289delinsCAG