Canonical Allele Identifier: CA2620808956

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560949-CCATCTCCGTCCTCCTCTCCCTCTCCCTCCCCCCTCCCCCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560950_109560990del , CM000674.2:g.109560950_109560990del	GRCh38
NC_000012.11:g.109998755_109998795del , CM000674.1:g.109998755_109998795del	GRCh37
NC_000012.10:g.108483138_108483178del	NCBI36
NG_007096.1:g.17508_17548del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.584+50_584+90del MANE Select	ENSP00000445920.1:n.584+50_584+90del
ENST00000537496.5:c.*149+50_*149+90del	ENSP00000444793.1:n.*149+50_*149+90del
ENST00000540016.5:c.428+50_428+90del	ENSP00000474582.1:n.428+50_428+90del
ENST00000541763.6:c.809+50_809+90del	ENSP00000474981.1:n.809+50_809+90del
ENST00000544051.5:c.*465+50_*465+90del	ENSP00000438079.1:n.*465+50_*465+90del
ENST00000545712.6:c.584+50_584+90del	ENSP00000445920.1:n.584+50_584+90del
NM_052845.3:c.584+50_584+90del	NP_443077.1:n.584+50_584+90del
NR_038118.1:n.744+50_744+90del
XM_011538266.1:c.429+50_429+90del	XP_011536568.1:n.429+50_429+90del
XM_011538267.1:c.429+50_429+90del	XP_011536569.1:n.429+50_429+90del
XM_011538268.1:c.311+50_311+90del	XP_011536570.1:n.311+50_311+90del
XM_011538269.1:c.308+50_308+90del	XP_011536571.1:n.308+50_308+90del
XM_011538267.3:c.429+50_429+90del	XP_011536569.1:n.429+50_429+90del
XM_011538268.2:c.311+50_311+90del	XP_011536570.1:n.311+50_311+90del
XM_011538269.2:c.308+50_308+90del	XP_011536571.1:n.308+50_308+90del
XM_024448961.1:c.584+50_584+90del	XP_024304729.1:n.584+50_584+90del
NM_052845.4:c.584+50_584+90del MANE Select	NP_443077.1:n.584+50_584+90del
NR_038118.2:n.695+50_695+90del