Canonical Allele Identifier: CA2620810023

Gene: MMAB

Linked Data

• gnomAD v4: 12-109556971-CCTCTCTCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109556973_109556981del , CM000674.2:g.109556973_109556981del	GRCh38
NC_000012.11:g.109994778_109994786del , CM000674.1:g.109994778_109994786del	GRCh37
NC_000012.10:g.108479161_108479169del	NCBI36
NG_007096.1:g.21518_21526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*48_*56del MANE Select	ENSP00000445920.1:n.*48_*56del
ENST00000537496.5:c.*366_*374del	ENSP00000444793.1:n.*366_*374del
ENST00000540016.5:c.*48_*56del	ENSP00000474582.1:n.*48_*56del
ENST00000541763.6:c.1026_1034del	ENSP00000474981.1:n.1026_1034del
ENST00000544051.5:c.*682_*690del	ENSP00000438079.1:n.*682_*690del
ENST00000545712.6:c.*48_*56del	ENSP00000445920.1:n.*48_*56del
NM_052845.3:c.*48_*56del	NP_443077.1:n.*48_*56del
NR_038118.1:n.961_969del
XM_011538266.1:c.*148_*156del	XP_011536568.1:n.*148_*156del
XM_011538267.1:c.*148_*156del	XP_011536569.1:n.*148_*156del
XM_011538268.1:c.*48_*56del	XP_011536570.1:n.*48_*56del
XM_011538269.1:c.*48_*56del	XP_011536571.1:n.*48_*56del
XM_011538267.3:c.*148_*156del	XP_011536569.1:n.*148_*156del
XM_011538268.2:c.*48_*56del	XP_011536570.1:n.*48_*56del
XM_011538269.2:c.*48_*56del	XP_011536571.1:n.*48_*56del
NM_052845.4:c.*48_*56del MANE Select	NP_443077.1:n.*48_*56del
NR_038118.2:n.912_920del