Canonical Allele Identifier: CA607285261

Gene: MMAB

Linked Data

• dbSNP Id: rs1421135107
• gnomAD v2: 12-109994715-AGGCTGC-A
• gnomAD v3: 12-109556910-AGGCTGC-A
• gnomAD v4: 12-109556910-AGGCTGC-A
• MyVariant Identifiers: chr12:g.109994716_109994721del (hg19) ; chr12:g.109556911_109556916del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109556911_109556916del , CM000674.2:g.109556911_109556916del	GRCh38
NC_000012.11:g.109994716_109994721del , CM000674.1:g.109994716_109994721del	GRCh37
NC_000012.10:g.108479099_108479104del	NCBI36
NG_007096.1:g.21582_21587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*112_*117del MANE Select	ENSP00000445920.1:n.*112_*117del
ENST00000537496.5:c.*430_*435del	ENSP00000444793.1:n.*430_*435del
ENST00000540016.5:c.*112_*117del	ENSP00000474582.1:n.*112_*117del
ENST00000541763.6:c.1090_1095del	ENSP00000474981.1:n.1090_1095del
ENST00000544051.5:c.*746_*751del	ENSP00000438079.1:n.*746_*751del
ENST00000545712.6:c.*112_*117del	ENSP00000445920.1:n.*112_*117del
NM_052845.3:c.*112_*117del	NP_443077.1:n.*112_*117del
NR_038118.1:n.1025_1030del
XM_011538266.1:c.*212_*217del	XP_011536568.1:n.*212_*217del
XM_011538267.1:c.*212_*217del	XP_011536569.1:n.*212_*217del
XM_011538268.1:c.*112_*117del	XP_011536570.1:n.*112_*117del
XM_011538269.1:c.*112_*117del	XP_011536571.1:n.*112_*117del
XM_011538267.3:c.*212_*217del	XP_011536569.1:n.*212_*217del
XM_011538268.2:c.*112_*117del	XP_011536570.1:n.*112_*117del
XM_011538269.2:c.*112_*117del	XP_011536571.1:n.*112_*117del
NM_052845.4:c.*112_*117del MANE Select	NP_443077.1:n.*112_*117del
NR_038118.2:n.976_981del