Canonical Allele Identifier: CA2620808908

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560938-TCTCCCTCTCCCCATCTCCGTCCTCCTCTCCCTCTCCCTCCCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560944_109560986del , CM000674.2:g.109560944_109560986del	GRCh38
NC_000012.11:g.109998749_109998791del , CM000674.1:g.109998749_109998791del	GRCh37
NC_000012.10:g.108483132_108483174del	NCBI36
NG_007096.1:g.17517_17559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.584+59_584+101del MANE Select	ENSP00000445920.1:n.584+59_584+101del
ENST00000537496.5:c.*149+59_*149+101del	ENSP00000444793.1:n.*149+59_*149+101del
ENST00000540016.5:c.428+59_428+101del	ENSP00000474582.1:n.428+59_428+101del
ENST00000541763.6:c.809+59_809+101del	ENSP00000474981.1:n.809+59_809+101del
ENST00000544051.5:c.*465+59_*465+101del	ENSP00000438079.1:n.*465+59_*465+101del
ENST00000545712.6:c.584+59_584+101del	ENSP00000445920.1:n.584+59_584+101del
NM_052845.3:c.584+59_584+101del	NP_443077.1:n.584+59_584+101del
NR_038118.1:n.744+59_744+101del
XM_011538266.1:c.429+59_429+101del	XP_011536568.1:n.429+59_429+101del
XM_011538267.1:c.429+59_429+101del	XP_011536569.1:n.429+59_429+101del
XM_011538268.1:c.311+59_311+101del	XP_011536570.1:n.311+59_311+101del
XM_011538269.1:c.308+59_308+101del	XP_011536571.1:n.308+59_308+101del
XM_011538267.3:c.429+59_429+101del	XP_011536569.1:n.429+59_429+101del
XM_011538268.2:c.311+59_311+101del	XP_011536570.1:n.311+59_311+101del
XM_011538269.2:c.308+59_308+101del	XP_011536571.1:n.308+59_308+101del
XM_024448961.1:c.584+59_584+101del	XP_024304729.1:n.584+59_584+101del
NM_052845.4:c.584+59_584+101del MANE Select	NP_443077.1:n.584+59_584+101del
NR_038118.2:n.695+59_695+101del