Canonical Allele Identifier: CA2620808909

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560938-TCTCCCTCTCCCCATCTCCGTCCTCCTCTCCCTCTCCCTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560940_109560979del , CM000674.2:g.109560940_109560979del	GRCh38
NC_000012.11:g.109998745_109998784del , CM000674.1:g.109998745_109998784del	GRCh37
NC_000012.10:g.108483128_108483167del	NCBI36
NG_007096.1:g.17520_17559del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.584+62_584+101del MANE Select	ENSP00000445920.1:n.584+62_584+101del
ENST00000537496.5:c.*149+62_*149+101del	ENSP00000444793.1:n.*149+62_*149+101del
ENST00000540016.5:c.428+62_428+101del	ENSP00000474582.1:n.428+62_428+101del
ENST00000541763.6:c.809+62_809+101del	ENSP00000474981.1:n.809+62_809+101del
ENST00000544051.5:c.*465+62_*465+101del	ENSP00000438079.1:n.*465+62_*465+101del
ENST00000545712.6:c.584+62_584+101del	ENSP00000445920.1:n.584+62_584+101del
NM_052845.3:c.584+62_584+101del	NP_443077.1:n.584+62_584+101del
NR_038118.1:n.744+62_744+101del
XM_011538266.1:c.429+62_429+101del	XP_011536568.1:n.429+62_429+101del
XM_011538267.1:c.429+62_429+101del	XP_011536569.1:n.429+62_429+101del
XM_011538268.1:c.311+62_311+101del	XP_011536570.1:n.311+62_311+101del
XM_011538269.1:c.308+62_308+101del	XP_011536571.1:n.308+62_308+101del
XM_011538267.3:c.429+62_429+101del	XP_011536569.1:n.429+62_429+101del
XM_011538268.2:c.311+62_311+101del	XP_011536570.1:n.311+62_311+101del
XM_011538269.2:c.308+62_308+101del	XP_011536571.1:n.308+62_308+101del
XM_024448961.1:c.584+62_584+101del	XP_024304729.1:n.584+62_584+101del
NM_052845.4:c.584+62_584+101del MANE Select	NP_443077.1:n.584+62_584+101del
NR_038118.2:n.695+62_695+101del