Canonical Allele Identifier: CA2620808944

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560946-TCCCCATCTCCGTCCTCCTCTCCCTCTCCCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560951_109560981del , CM000674.2:g.109560951_109560981del	GRCh38
NC_000012.11:g.109998756_109998786del , CM000674.1:g.109998756_109998786del	GRCh37
NC_000012.10:g.108483139_108483169del	NCBI36
NG_007096.1:g.17521_17551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.584+63_584+93del MANE Select	ENSP00000445920.1:n.584+63_584+93del
ENST00000537496.5:c.*149+63_*149+93del	ENSP00000444793.1:n.*149+63_*149+93del
ENST00000540016.5:c.428+63_428+93del	ENSP00000474582.1:n.428+63_428+93del
ENST00000541763.6:c.809+63_809+93del	ENSP00000474981.1:n.809+63_809+93del
ENST00000544051.5:c.*465+63_*465+93del	ENSP00000438079.1:n.*465+63_*465+93del
ENST00000545712.6:c.584+63_584+93del	ENSP00000445920.1:n.584+63_584+93del
NM_052845.3:c.584+63_584+93del	NP_443077.1:n.584+63_584+93del
NR_038118.1:n.744+63_744+93del
XM_011538266.1:c.429+63_429+93del	XP_011536568.1:n.429+63_429+93del
XM_011538267.1:c.429+63_429+93del	XP_011536569.1:n.429+63_429+93del
XM_011538268.1:c.311+63_311+93del	XP_011536570.1:n.311+63_311+93del
XM_011538269.1:c.308+63_308+93del	XP_011536571.1:n.308+63_308+93del
XM_011538267.3:c.429+63_429+93del	XP_011536569.1:n.429+63_429+93del
XM_011538268.2:c.311+63_311+93del	XP_011536570.1:n.311+63_311+93del
XM_011538269.2:c.308+63_308+93del	XP_011536571.1:n.308+63_308+93del
XM_024448961.1:c.584+63_584+93del	XP_024304729.1:n.584+63_584+93del
NM_052845.4:c.584+63_584+93del MANE Select	NP_443077.1:n.584+63_584+93del
NR_038118.2:n.695+63_695+93del