Canonical Allele Identifier: CA2062447931

Gene: MMAB

Linked Data

• dbSNP Id: rs1884167493
• gnomAD v4: 12-109560934-CCCCTCTCCCTCTCCCCATCTCCGTCCTCCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560946_109560977del , CM000674.2:g.109560946_109560977del	GRCh38
NC_000012.11:g.109998751_109998782del , CM000674.1:g.109998751_109998782del	GRCh37
NC_000012.10:g.108483134_108483165del	NCBI36
NG_007096.1:g.17532_17563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.584+74_584+105del MANE Select	ENSP00000445920.1:n.584+74_584+105del
ENST00000537496.5:c.*149+74_*149+105del	ENSP00000444793.1:n.*149+74_*149+105del
ENST00000540016.5:c.428+74_428+105del	ENSP00000474582.1:n.428+74_428+105del
ENST00000541763.6:c.809+74_809+105del	ENSP00000474981.1:n.809+74_809+105del
ENST00000544051.5:c.*465+74_*465+105del	ENSP00000438079.1:n.*465+74_*465+105del
ENST00000545712.6:c.584+74_584+105del	ENSP00000445920.1:n.584+74_584+105del
NM_052845.3:c.584+74_584+105del	NP_443077.1:n.584+74_584+105del
NR_038118.1:n.744+74_744+105del
XM_011538266.1:c.429+74_429+105del	XP_011536568.1:n.429+74_429+105del
XM_011538267.1:c.429+74_429+105del	XP_011536569.1:n.429+74_429+105del
XM_011538268.1:c.311+74_311+105del	XP_011536570.1:n.311+74_311+105del
XM_011538269.1:c.308+74_308+105del	XP_011536571.1:n.308+74_308+105del
XM_011538267.3:c.429+74_429+105del	XP_011536569.1:n.429+74_429+105del
XM_011538268.2:c.311+74_311+105del	XP_011536570.1:n.311+74_311+105del
XM_011538269.2:c.308+74_308+105del	XP_011536571.1:n.308+74_308+105del
XM_024448961.1:c.584+74_584+105del	XP_024304729.1:n.584+74_584+105del
NM_052845.4:c.584+74_584+105del MANE Select	NP_443077.1:n.584+74_584+105del
NR_038118.2:n.695+74_695+105del