Canonical Allele Identifier: CA2620808884

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560933-GCCCCTCTCCCTCTCCCCATCTCCGTCCTCCTCTCCCTCTCCCTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560940_109560984del , CM000674.2:g.109560940_109560984del	GRCh38
NC_000012.11:g.109998745_109998789del , CM000674.1:g.109998745_109998789del	GRCh37
NC_000012.10:g.108483128_108483172del	NCBI36
NG_007096.1:g.17520_17564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.584+62_584+106del MANE Select	ENSP00000445920.1:n.584+62_584+106del
ENST00000537496.5:c.*149+62_*149+106del	ENSP00000444793.1:n.*149+62_*149+106del
ENST00000540016.5:c.428+62_428+106del	ENSP00000474582.1:n.428+62_428+106del
ENST00000541763.6:c.809+62_809+106del	ENSP00000474981.1:n.809+62_809+106del
ENST00000544051.5:c.*465+62_*465+106del	ENSP00000438079.1:n.*465+62_*465+106del
ENST00000545712.6:c.584+62_584+106del	ENSP00000445920.1:n.584+62_584+106del
NM_052845.3:c.584+62_584+106del	NP_443077.1:n.584+62_584+106del
NR_038118.1:n.744+62_744+106del
XM_011538266.1:c.429+62_429+106del	XP_011536568.1:n.429+62_429+106del
XM_011538267.1:c.429+62_429+106del	XP_011536569.1:n.429+62_429+106del
XM_011538268.1:c.311+62_311+106del	XP_011536570.1:n.311+62_311+106del
XM_011538269.1:c.308+62_308+106del	XP_011536571.1:n.308+62_308+106del
XM_011538267.3:c.429+62_429+106del	XP_011536569.1:n.429+62_429+106del
XM_011538268.2:c.311+62_311+106del	XP_011536570.1:n.311+62_311+106del
XM_011538269.2:c.308+62_308+106del	XP_011536571.1:n.308+62_308+106del
XM_024448961.1:c.584+62_584+106del	XP_024304729.1:n.584+62_584+106del
NM_052845.4:c.584+62_584+106del MANE Select	NP_443077.1:n.584+62_584+106del
NR_038118.2:n.695+62_695+106del