Canonical Allele Identifier: CA2620809022

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560966-T-TCCCTCTCCCTCCCCCCTCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560967_109560988dup , CM000674.2:g.109560967_109560988dup	GRCh38
NC_000012.11:g.109998772_109998793dup , CM000674.1:g.109998772_109998793dup	GRCh37
NC_000012.10:g.108483155_108483176dup	NCBI36
NG_007096.1:g.17510_17531dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.584+52_584+73dup MANE Select	ENSP00000445920.1:n.584+52_584+73dup
ENST00000537496.5:c.*149+52_*149+73dup	ENSP00000444793.1:n.*149+52_*149+73dup
ENST00000540016.5:c.428+52_428+73dup	ENSP00000474582.1:n.428+52_428+73dup
ENST00000541763.6:c.809+52_809+73dup	ENSP00000474981.1:n.809+52_809+73dup
ENST00000544051.5:c.*465+52_*465+73dup	ENSP00000438079.1:n.*465+52_*465+73dup
ENST00000545712.6:c.584+52_584+73dup	ENSP00000445920.1:n.584+52_584+73dup
NM_052845.3:c.584+52_584+73dup	NP_443077.1:n.584+52_584+73dup
NR_038118.1:n.744+52_744+73dup
XM_011538266.1:c.429+52_429+73dup	XP_011536568.1:n.429+52_429+73dup
XM_011538267.1:c.429+52_429+73dup	XP_011536569.1:n.429+52_429+73dup
XM_011538268.1:c.311+52_311+73dup	XP_011536570.1:n.311+52_311+73dup
XM_011538269.1:c.308+52_308+73dup	XP_011536571.1:n.308+52_308+73dup
XM_011538267.3:c.429+52_429+73dup	XP_011536569.1:n.429+52_429+73dup
XM_011538268.2:c.311+52_311+73dup	XP_011536570.1:n.311+52_311+73dup
XM_011538269.2:c.308+52_308+73dup	XP_011536571.1:n.308+52_308+73dup
XM_024448961.1:c.584+52_584+73dup	XP_024304729.1:n.584+52_584+73dup
NM_052845.4:c.584+52_584+73dup MANE Select	NP_443077.1:n.584+52_584+73dup
NR_038118.2:n.695+52_695+73dup