Canonical Allele Identifier: CA2620808935

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560944-TCTCCCCATCTCCGTCCTCCTCTCCCTCTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560951_109560980del , CM000674.2:g.109560951_109560980del	GRCh38
NC_000012.11:g.109998756_109998785del , CM000674.1:g.109998756_109998785del	GRCh37
NC_000012.10:g.108483139_108483168del	NCBI36
NG_007096.1:g.17524_17553del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.584+66_584+95del MANE Select	ENSP00000445920.1:n.584+66_584+95del
ENST00000537496.5:c.*149+66_*149+95del	ENSP00000444793.1:n.*149+66_*149+95del
ENST00000540016.5:c.428+66_428+95del	ENSP00000474582.1:n.428+66_428+95del
ENST00000541763.6:c.809+66_809+95del	ENSP00000474981.1:n.809+66_809+95del
ENST00000544051.5:c.*465+66_*465+95del	ENSP00000438079.1:n.*465+66_*465+95del
ENST00000545712.6:c.584+66_584+95del	ENSP00000445920.1:n.584+66_584+95del
NM_052845.3:c.584+66_584+95del	NP_443077.1:n.584+66_584+95del
NR_038118.1:n.744+66_744+95del
XM_011538266.1:c.429+66_429+95del	XP_011536568.1:n.429+66_429+95del
XM_011538267.1:c.429+66_429+95del	XP_011536569.1:n.429+66_429+95del
XM_011538268.1:c.311+66_311+95del	XP_011536570.1:n.311+66_311+95del
XM_011538269.1:c.308+66_308+95del	XP_011536571.1:n.308+66_308+95del
XM_011538267.3:c.429+66_429+95del	XP_011536569.1:n.429+66_429+95del
XM_011538268.2:c.311+66_311+95del	XP_011536570.1:n.311+66_311+95del
XM_011538269.2:c.308+66_308+95del	XP_011536571.1:n.308+66_308+95del
XM_024448961.1:c.584+66_584+95del	XP_024304729.1:n.584+66_584+95del
NM_052845.4:c.584+66_584+95del MANE Select	NP_443077.1:n.584+66_584+95del
NR_038118.2:n.695+66_695+95del