Canonical Allele Identifier: CA683436661

Gene: MMAB

Linked Data

• dbSNP Id: rs1375932785
• gnomAD v3: 12-109557351-GCTGGGGCCATTC-G
• gnomAD v4: 12-109557351-GCTGGGGCCATTC-G
• MyVariant Identifiers: chr12:g.109995157_109995168del (hg19) ; chr12:g.109557352_109557363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557355_109557366del , CM000674.2:g.109557355_109557366del	GRCh38
NC_000012.11:g.109995160_109995171del , CM000674.1:g.109995160_109995171del	GRCh37
NC_000012.10:g.108479543_108479554del	NCBI36
NG_007096.1:g.21135_21146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.645-227_645-216del MANE Select	ENSP00000445920.1:n.645-227_645-216del
ENST00000537496.5:c.*210-227_*210-216del	ENSP00000444793.1:n.*210-227_*210-216del
ENST00000540016.5:c.489-227_489-216del	ENSP00000474582.1:n.489-227_489-216del
ENST00000541763.6:c.870-227_870-216del	ENSP00000474981.1:n.870-227_870-216del
ENST00000544051.5:c.*526-227_*526-216del	ENSP00000438079.1:n.*526-227_*526-216del
ENST00000545712.6:c.645-227_645-216del	ENSP00000445920.1:n.645-227_645-216del
NM_052845.3:c.645-227_645-216del	NP_443077.1:n.645-227_645-216del
NR_038118.1:n.805-227_805-216del
XM_011538266.1:c.490-227_490-216del	XP_011536568.1:n.490-227_490-216del
XM_011538267.1:c.490-227_490-216del	XP_011536569.1:n.490-227_490-216del
XM_011538268.1:c.372-227_372-216del	XP_011536570.1:n.372-227_372-216del
XM_011538269.1:c.369-227_369-216del	XP_011536571.1:n.369-227_369-216del
XM_011538267.3:c.490-227_490-216del	XP_011536569.1:n.490-227_490-216del
XM_011538268.2:c.372-227_372-216del	XP_011536570.1:n.372-227_372-216del
XM_011538269.2:c.369-227_369-216del	XP_011536571.1:n.369-227_369-216del
NM_052845.4:c.645-227_645-216del MANE Select	NP_443077.1:n.645-227_645-216del
NR_038118.2:n.756-227_756-216del