Canonical Allele Identifier: CA2620809753

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560972-T-TGGCGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560972_109560973insGGCGGGC , CM000674.2:g.109560972_109560973insGGCGGGC	GRCh38
NC_000012.11:g.109998777_109998778insGGCGGGC , CM000674.1:g.109998777_109998778insGGCGGGC	GRCh37
NC_000012.10:g.108483160_108483161insGGCGGGC	NCBI36
NG_007096.1:g.17525_17526insGCCCGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.584+67_584+68insGCCCGCC MANE Select	ENSP00000445920.1:n.584+67_584+68insGCCCGCC
ENST00000537496.5:c.*149+67_*149+68insGCCCGCC	ENSP00000444793.1:n.*149+67_*149+68insGCCCGCC
ENST00000540016.5:c.428+67_428+68insGCCCGCC	ENSP00000474582.1:n.428+67_428+68insGCCCGCC
ENST00000541763.6:c.809+67_809+68insGCCCGCC	ENSP00000474981.1:n.809+67_809+68insGCCCGCC
ENST00000544051.5:c.*465+67_*465+68insGCCCGCC	ENSP00000438079.1:n.*465+67_*465+68insGCCCGCC
ENST00000545712.6:c.584+67_584+68insGCCCGCC	ENSP00000445920.1:n.584+67_584+68insGCCCGCC
NM_052845.3:c.584+67_584+68insGCCCGCC	NP_443077.1:n.584+67_584+68insGCCCGCC
NR_038118.1:n.744+67_744+68insGCCCGCC
XM_011538266.1:c.429+67_429+68insGCCCGCC	XP_011536568.1:n.429+67_429+68insGCCCGCC
XM_011538267.1:c.429+67_429+68insGCCCGCC	XP_011536569.1:n.429+67_429+68insGCCCGCC
XM_011538268.1:c.311+67_311+68insGCCCGCC	XP_011536570.1:n.311+67_311+68insGCCCGCC
XM_011538269.1:c.308+67_308+68insGCCCGCC	XP_011536571.1:n.308+67_308+68insGCCCGCC
XM_011538267.3:c.429+67_429+68insGCCCGCC	XP_011536569.1:n.429+67_429+68insGCCCGCC
XM_011538268.2:c.311+67_311+68insGCCCGCC	XP_011536570.1:n.311+67_311+68insGCCCGCC
XM_011538269.2:c.308+67_308+68insGCCCGCC	XP_011536571.1:n.308+67_308+68insGCCCGCC
XM_024448961.1:c.584+67_584+68insGCCCGCC	XP_024304729.1:n.584+67_584+68insGCCCGCC
NM_052845.4:c.584+67_584+68insGCCCGCC MANE Select	NP_443077.1:n.584+67_584+68insGCCCGCC
NR_038118.2:n.695+67_695+68insGCCCGCC