Canonical Allele Identifier: CA2620809012

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560965-CTCCCTCTCCCTCCCCCCTCCCCCTTGTTCCTCTCCCTCTCCCTTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560966_109561011del , CM000674.2:g.109560966_109561011del	GRCh38
NC_000012.11:g.109998771_109998816del , CM000674.1:g.109998771_109998816del	GRCh37
NC_000012.10:g.108483154_108483199del	NCBI36
NG_007096.1:g.17487_17532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.584+29_584+74del MANE Select	ENSP00000445920.1:n.584+29_584+74del
ENST00000537496.5:c.*149+29_*149+74del	ENSP00000444793.1:n.*149+29_*149+74del
ENST00000540016.5:c.428+29_428+74del	ENSP00000474582.1:n.428+29_428+74del
ENST00000541763.6:c.809+29_809+74del	ENSP00000474981.1:n.809+29_809+74del
ENST00000544051.5:c.*465+29_*465+74del	ENSP00000438079.1:n.*465+29_*465+74del
ENST00000545712.6:c.584+29_584+74del	ENSP00000445920.1:n.584+29_584+74del
NM_052845.3:c.584+29_584+74del	NP_443077.1:n.584+29_584+74del
NR_038118.1:n.744+29_744+74del
XM_011538266.1:c.429+29_429+74del	XP_011536568.1:n.429+29_429+74del
XM_011538267.1:c.429+29_429+74del	XP_011536569.1:n.429+29_429+74del
XM_011538268.1:c.311+29_311+74del	XP_011536570.1:n.311+29_311+74del
XM_011538269.1:c.308+29_308+74del	XP_011536571.1:n.308+29_308+74del
XM_011538267.3:c.429+29_429+74del	XP_011536569.1:n.429+29_429+74del
XM_011538268.2:c.311+29_311+74del	XP_011536570.1:n.311+29_311+74del
XM_011538269.2:c.308+29_308+74del	XP_011536571.1:n.308+29_308+74del
XM_024448961.1:c.584+29_584+74del	XP_024304729.1:n.584+29_584+74del
NM_052845.4:c.584+29_584+74del MANE Select	NP_443077.1:n.584+29_584+74del
NR_038118.2:n.695+29_695+74del