Canonical Allele Identifier: CA2620808995

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560961-T-TCCTCTCCCTCTCCCCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560975_109560976insCCCCCCCCCCCCCCTCTCCCTCTCCC , CM000674.2:g.109560975_109560976insCCCCCCCCCCCCCCTCTCCCTCTCCC	GRCh38
NC_000012.11:g.109998780_109998781insCCCCCCCCCCCCCCTCTCCCTCTCCC , CM000674.1:g.109998780_109998781insCCCCCCCCCCCCCCTCTCCCTCTCCC	GRCh37
NC_000012.10:g.108483163_108483164insCCCCCCCCCCCCCCTCTCCCTCTCCC	NCBI36
NG_007096.1:g.17536_17537insGGGGGGGGGGGGGGGAGAGGGAGAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.584+78_584+79insGGGGGGGGGGGGGGGAGAGGGAGAGG MANE Select	ENSP00000445920.1:n.584+78_584+79insGGGGGGGGGGGGGGGAGAGGGAGAG...
ENST00000537496.5:c.*149+78_*149+79insGGGGGGGGGGGGGGGAGAGGGAGAGG	ENSP00000444793.1:n.*149+78_*149+79insGGGGGGGGGGGGGGGAGAGGGAG...
ENST00000540016.5:c.428+78_428+79insGGGGGGGGGGGGGGGAGAGGGAGAGG	ENSP00000474582.1:n.428+78_428+79insGGGGGGGGGGGGGGGAGAGGGAGAG...
ENST00000541763.6:c.809+78_809+79insGGGGGGGGGGGGGGGAGAGGGAGAGG	ENSP00000474981.1:n.809+78_809+79insGGGGGGGGGGGGGGGAGAGGGAGAG...
ENST00000544051.5:c.*465+78_*465+79insGGGGGGGGGGGGGGGAGAGGGAGAGG	ENSP00000438079.1:n.*465+78_*465+79insGGGGGGGGGGGGGGGAGAGGGAG...
ENST00000545712.6:c.584+78_584+79insGGGGGGGGGGGGGGGAGAGGGAGAGG	ENSP00000445920.1:n.584+78_584+79insGGGGGGGGGGGGGGGAGAGGGAGAG...
NM_052845.3:c.584+78_584+79insGGGGGGGGGGGGGGGAGAGGGAGAGG	NP_443077.1:n.584+78_584+79insGGGGGGGGGGGGGGGAGAGGGAGAGG
NR_038118.1:n.744+78_744+79insGGGGGGGGGGGGGGGAGAGGGAGAGG
XM_011538266.1:c.429+78_429+79insGGGGGGGGGGGGGGGAGAGGGAGAGG	XP_011536568.1:n.429+78_429+79insGGGGGGGGGGGGGGGAGAGGGAGAGG
XM_011538267.1:c.429+78_429+79insGGGGGGGGGGGGGGGAGAGGGAGAGG	XP_011536569.1:n.429+78_429+79insGGGGGGGGGGGGGGGAGAGGGAGAGG
XM_011538268.1:c.311+78_311+79insGGGGGGGGGGGGGGGAGAGGGAGAGG	XP_011536570.1:n.311+78_311+79insGGGGGGGGGGGGGGGAGAGGGAGAGG
XM_011538269.1:c.308+78_308+79insGGGGGGGGGGGGGGGAGAGGGAGAGG	XP_011536571.1:n.308+78_308+79insGGGGGGGGGGGGGGGAGAGGGAGAGG
XM_011538267.3:c.429+78_429+79insGGGGGGGGGGGGGGGAGAGGGAGAGG	XP_011536569.1:n.429+78_429+79insGGGGGGGGGGGGGGGAGAGGGAGAGG
XM_011538268.2:c.311+78_311+79insGGGGGGGGGGGGGGGAGAGGGAGAGG	XP_011536570.1:n.311+78_311+79insGGGGGGGGGGGGGGGAGAGGGAGAGG
XM_011538269.2:c.308+78_308+79insGGGGGGGGGGGGGGGAGAGGGAGAGG	XP_011536571.1:n.308+78_308+79insGGGGGGGGGGGGGGGAGAGGGAGAGG
XM_024448961.1:c.584+78_584+79insGGGGGGGGGGGGGGGAGAGGGAGAGG	XP_024304729.1:n.584+78_584+79insGGGGGGGGGGGGGGGAGAGGGAGAGG
NM_052845.4:c.584+78_584+79insGGGGGGGGGGGGGGGAGAGGGAGAGG MANE Select	NP_443077.1:n.584+78_584+79insGGGGGGGGGGGGGGGAGAGGGAGAGG
NR_038118.2:n.695+78_695+79insGGGGGGGGGGGGGGGAGAGGGAGAGG