Canonical Allele Identifier: CA2620808966

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560951-ATCTCCGTCCTCCTCTCCCTCTCCCTCCCCCCTCCCCCTTGTTCCTCTCCCTCTCCCTTGGGCCCTCTCCCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560957_109561028del , CM000674.2:g.109560957_109561028del	GRCh38
NC_000012.11:g.109998762_109998833del , CM000674.1:g.109998762_109998833del	GRCh37
NC_000012.10:g.108483145_108483216del	NCBI36
NG_007096.1:g.17475_17546del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.584+17_584+88del MANE Select	ENSP00000445920.1:n.584+17_584+88del
ENST00000537496.5:c.*149+17_*149+88del	ENSP00000444793.1:n.*149+17_*149+88del
ENST00000540016.5:c.428+17_428+88del	ENSP00000474582.1:n.428+17_428+88del
ENST00000541763.6:c.809+17_809+88del	ENSP00000474981.1:n.809+17_809+88del
ENST00000544051.5:c.*465+17_*465+88del	ENSP00000438079.1:n.*465+17_*465+88del
ENST00000545712.6:c.584+17_584+88del	ENSP00000445920.1:n.584+17_584+88del
NM_052845.3:c.584+17_584+88del	NP_443077.1:n.584+17_584+88del
NR_038118.1:n.744+17_744+88del
XM_011538266.1:c.429+17_429+88del	XP_011536568.1:n.429+17_429+88del
XM_011538267.1:c.429+17_429+88del	XP_011536569.1:n.429+17_429+88del
XM_011538268.1:c.311+17_311+88del	XP_011536570.1:n.311+17_311+88del
XM_011538269.1:c.308+17_308+88del	XP_011536571.1:n.308+17_308+88del
XM_011538267.3:c.429+17_429+88del	XP_011536569.1:n.429+17_429+88del
XM_011538268.2:c.311+17_311+88del	XP_011536570.1:n.311+17_311+88del
XM_011538269.2:c.308+17_308+88del	XP_011536571.1:n.308+17_308+88del
XM_024448961.1:c.584+17_584+88del	XP_024304729.1:n.584+17_584+88del
NM_052845.4:c.584+17_584+88del MANE Select	NP_443077.1:n.584+17_584+88del
NR_038118.2:n.695+17_695+88del