Canonical Allele Identifier: CA2620809368

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560970-T-TGTGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560970_109560971insGTGGGGGGG , CM000674.2:g.109560970_109560971insGTGGGGGGG	GRCh38
NC_000012.11:g.109998775_109998776insGTGGGGGGG , CM000674.1:g.109998775_109998776insGTGGGGGGG	GRCh37
NC_000012.10:g.108483158_108483159insGTGGGGGGG	NCBI36
NG_007096.1:g.17527_17528insCCCCCCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.584+69_584+70insCCCCCCCAC MANE Select	ENSP00000445920.1:n.584+69_584+70insCCCCCCCAC
ENST00000537496.5:c.*149+69_*149+70insCCCCCCCAC	ENSP00000444793.1:n.*149+69_*149+70insCCCCCCCAC
ENST00000540016.5:c.428+69_428+70insCCCCCCCAC	ENSP00000474582.1:n.428+69_428+70insCCCCCCCAC
ENST00000541763.6:c.809+69_809+70insCCCCCCCAC	ENSP00000474981.1:n.809+69_809+70insCCCCCCCAC
ENST00000544051.5:c.*465+69_*465+70insCCCCCCCAC	ENSP00000438079.1:n.*465+69_*465+70insCCCCCCCAC
ENST00000545712.6:c.584+69_584+70insCCCCCCCAC	ENSP00000445920.1:n.584+69_584+70insCCCCCCCAC
NM_052845.3:c.584+69_584+70insCCCCCCCAC	NP_443077.1:n.584+69_584+70insCCCCCCCAC
NR_038118.1:n.744+69_744+70insCCCCCCCAC
XM_011538266.1:c.429+69_429+70insCCCCCCCAC	XP_011536568.1:n.429+69_429+70insCCCCCCCAC
XM_011538267.1:c.429+69_429+70insCCCCCCCAC	XP_011536569.1:n.429+69_429+70insCCCCCCCAC
XM_011538268.1:c.311+69_311+70insCCCCCCCAC	XP_011536570.1:n.311+69_311+70insCCCCCCCAC
XM_011538269.1:c.308+69_308+70insCCCCCCCAC	XP_011536571.1:n.308+69_308+70insCCCCCCCAC
XM_011538267.3:c.429+69_429+70insCCCCCCCAC	XP_011536569.1:n.429+69_429+70insCCCCCCCAC
XM_011538268.2:c.311+69_311+70insCCCCCCCAC	XP_011536570.1:n.311+69_311+70insCCCCCCCAC
XM_011538269.2:c.308+69_308+70insCCCCCCCAC	XP_011536571.1:n.308+69_308+70insCCCCCCCAC
XM_024448961.1:c.584+69_584+70insCCCCCCCAC	XP_024304729.1:n.584+69_584+70insCCCCCCCAC
NM_052845.4:c.584+69_584+70insCCCCCCCAC MANE Select	NP_443077.1:n.584+69_584+70insCCCCCCCAC
NR_038118.2:n.695+69_695+70insCCCCCCCAC