Canonical Allele Identifier: CA951701330

Gene: MMAB

Linked Data

• dbSNP Id: rs1884167725
• gnomAD v3: 12-109560935-CCCTCTCCCTCTCCCCATCTCCGTCCT-C
• gnomAD v4: 12-109560935-CCCTCTCCCTCTCCCCATCTCCGTCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560950_109560975del , CM000674.2:g.109560950_109560975del	GRCh38
NC_000012.11:g.109998755_109998780del , CM000674.1:g.109998755_109998780del	GRCh37
NC_000012.10:g.108483138_108483163del	NCBI36
NG_007096.1:g.17537_17562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.584+79_584+104del MANE Select	ENSP00000445920.1:n.584+79_584+104del
ENST00000537496.5:c.*149+79_*149+104del	ENSP00000444793.1:n.*149+79_*149+104del
ENST00000540016.5:c.428+79_428+104del	ENSP00000474582.1:n.428+79_428+104del
ENST00000541763.6:c.809+79_809+104del	ENSP00000474981.1:n.809+79_809+104del
ENST00000544051.5:c.*465+79_*465+104del	ENSP00000438079.1:n.*465+79_*465+104del
ENST00000545712.6:c.584+79_584+104del	ENSP00000445920.1:n.584+79_584+104del
NM_052845.3:c.584+79_584+104del	NP_443077.1:n.584+79_584+104del
NR_038118.1:n.744+79_744+104del
XM_011538266.1:c.429+79_429+104del	XP_011536568.1:n.429+79_429+104del
XM_011538267.1:c.429+79_429+104del	XP_011536569.1:n.429+79_429+104del
XM_011538268.1:c.311+79_311+104del	XP_011536570.1:n.311+79_311+104del
XM_011538269.1:c.308+79_308+104del	XP_011536571.1:n.308+79_308+104del
XM_011538267.3:c.429+79_429+104del	XP_011536569.1:n.429+79_429+104del
XM_011538268.2:c.311+79_311+104del	XP_011536570.1:n.311+79_311+104del
XM_011538269.2:c.308+79_308+104del	XP_011536571.1:n.308+79_308+104del
XM_024448961.1:c.584+79_584+104del	XP_024304729.1:n.584+79_584+104del
NM_052845.4:c.584+79_584+104del MANE Select	NP_443077.1:n.584+79_584+104del
NR_038118.2:n.695+79_695+104del