Canonical Allele Identifier: CA607285360

Gene: MMAB

Linked Data

• dbSNP Id: rs1271609411
• gnomAD v2: 12-109995230-CTG-C
• gnomAD v3: 12-109557425-CTG-C
• gnomAD v4: 12-109557425-CTG-C
• MyVariant Identifiers: chr12:g.109995231_109995232del (hg19) ; chr12:g.109557426_109557427del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557426_109557427del , CM000674.2:g.109557426_109557427del	GRCh38
NC_000012.11:g.109995231_109995232del , CM000674.1:g.109995231_109995232del	GRCh37
NC_000012.10:g.108479614_108479615del	NCBI36
NG_007096.1:g.21071_21072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.645-291_645-290del MANE Select	ENSP00000445920.1:n.645-291_645-290del
ENST00000537496.5:c.*210-291_*210-290del	ENSP00000444793.1:n.*210-291_*210-290del
ENST00000540016.5:c.489-291_489-290del	ENSP00000474582.1:n.489-291_489-290del
ENST00000541763.6:c.870-291_870-290del	ENSP00000474981.1:n.870-291_870-290del
ENST00000544051.5:c.*526-291_*526-290del	ENSP00000438079.1:n.*526-291_*526-290del
ENST00000545712.6:c.645-291_645-290del	ENSP00000445920.1:n.645-291_645-290del
NM_052845.3:c.645-291_645-290del	NP_443077.1:n.645-291_645-290del
NR_038118.1:n.805-291_805-290del
XM_011538266.1:c.490-291_490-290del	XP_011536568.1:n.490-291_490-290del
XM_011538267.1:c.490-291_490-290del	XP_011536569.1:n.490-291_490-290del
XM_011538268.1:c.372-291_372-290del	XP_011536570.1:n.372-291_372-290del
XM_011538269.1:c.369-291_369-290del	XP_011536571.1:n.369-291_369-290del
XM_011538267.3:c.490-291_490-290del	XP_011536569.1:n.490-291_490-290del
XM_011538268.2:c.372-291_372-290del	XP_011536570.1:n.372-291_372-290del
XM_011538269.2:c.369-291_369-290del	XP_011536571.1:n.369-291_369-290del
NM_052845.4:c.645-291_645-290del MANE Select	NP_443077.1:n.645-291_645-290del
NR_038118.2:n.756-291_756-290del