Canonical Allele Identifier: CA2620808814

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560889-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560893_109560894del , CM000674.2:g.109560893_109560894del	GRCh38
NC_000012.11:g.109998698_109998699del , CM000674.1:g.109998698_109998699del	GRCh37
NC_000012.10:g.108483081_108483082del	NCBI36
NG_007096.1:g.17607_17608del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.584+149_584+150del MANE Select	ENSP00000445920.1:n.584+149_584+150del
ENST00000537496.5:c.*149+149_*149+150del	ENSP00000444793.1:n.*149+149_*149+150del
ENST00000540016.5:c.428+149_428+150del	ENSP00000474582.1:n.428+149_428+150del
ENST00000541763.6:c.809+149_809+150del	ENSP00000474981.1:n.809+149_809+150del
ENST00000544051.5:c.*465+149_*465+150del	ENSP00000438079.1:n.*465+149_*465+150del
ENST00000545712.6:c.584+149_584+150del	ENSP00000445920.1:n.584+149_584+150del
NM_052845.3:c.584+149_584+150del	NP_443077.1:n.584+149_584+150del
NR_038118.1:n.744+149_744+150del
XM_011538266.1:c.429+149_429+150del	XP_011536568.1:n.429+149_429+150del
XM_011538267.1:c.429+149_429+150del	XP_011536569.1:n.429+149_429+150del
XM_011538268.1:c.311+149_311+150del	XP_011536570.1:n.311+149_311+150del
XM_011538269.1:c.308+149_308+150del	XP_011536571.1:n.308+149_308+150del
XM_011538267.3:c.429+149_429+150del	XP_011536569.1:n.429+149_429+150del
XM_011538268.2:c.311+149_311+150del	XP_011536570.1:n.311+149_311+150del
XM_011538269.2:c.308+149_308+150del	XP_011536571.1:n.308+149_308+150del
XM_024448961.1:c.584+149_584+150del	XP_024304729.1:n.584+149_584+150del
NM_052845.4:c.584+149_584+150del MANE Select	NP_443077.1:n.584+149_584+150del
NR_038118.2:n.695+149_695+150del