Canonical Allele Identifier: CA2620810442

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557219-CAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557220_109557222del , CM000674.2:g.109557220_109557222del	GRCh38
NC_000012.11:g.109995025_109995027del , CM000674.1:g.109995025_109995027del	GRCh37
NC_000012.10:g.108479408_108479410del	NCBI36
NG_007096.1:g.21276_21278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.645-86_645-84del MANE Select	ENSP00000445920.1:n.645-86_645-84del
ENST00000537496.5:c.*210-86_*210-84del	ENSP00000444793.1:n.*210-86_*210-84del
ENST00000540016.5:c.489-86_489-84del	ENSP00000474582.1:n.489-86_489-84del
ENST00000541763.6:c.870-86_870-84del	ENSP00000474981.1:n.870-86_870-84del
ENST00000544051.5:c.*526-86_*526-84del	ENSP00000438079.1:n.*526-86_*526-84del
ENST00000545712.6:c.645-86_645-84del	ENSP00000445920.1:n.645-86_645-84del
NM_052845.3:c.645-86_645-84del	NP_443077.1:n.645-86_645-84del
NR_038118.1:n.805-86_805-84del
XM_011538266.1:c.490-86_490-84del	XP_011536568.1:n.490-86_490-84del
XM_011538267.1:c.490-86_490-84del	XP_011536569.1:n.490-86_490-84del
XM_011538268.1:c.372-86_372-84del	XP_011536570.1:n.372-86_372-84del
XM_011538269.1:c.369-86_369-84del	XP_011536571.1:n.369-86_369-84del
XM_011538267.3:c.490-86_490-84del	XP_011536569.1:n.490-86_490-84del
XM_011538268.2:c.372-86_372-84del	XP_011536570.1:n.372-86_372-84del
XM_011538269.2:c.369-86_369-84del	XP_011536571.1:n.369-86_369-84del
NM_052845.4:c.645-86_645-84del MANE Select	NP_443077.1:n.645-86_645-84del
NR_038118.2:n.756-86_756-84del