Canonical Allele Identifier: CA2620810165

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557052-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557055del , CM000674.2:g.109557055del	GRCh38
NC_000012.11:g.109994860del , CM000674.1:g.109994860del	GRCh37
NC_000012.10:g.108479243del	NCBI36
NG_007096.1:g.21445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.728del MANE Select	ENSP00000445920.1:p.Pro243HisfsTer?
ENST00000537496.5:c.*293del	ENSP00000444793.1:n.*293del
ENST00000540016.5:c.572del	ENSP00000474582.1:p.Pro191HisfsTer?
ENST00000541763.6:c.953del	ENSP00000474981.1:n.953del
ENST00000544051.5:c.*609del	ENSP00000438079.1:n.*609del
ENST00000545712.6:c.728del	ENSP00000445920.1:p.Pro243HisfsTer?
NM_052845.3:c.728del	NP_443077.1:p.Pro243HisfsTer?
NR_038118.1:n.888del
XM_011538266.1:c.*75del	XP_011536568.1:n.*75del
XM_011538267.1:c.*75del	XP_011536569.1:n.*75del
XM_011538268.1:c.455del	XP_011536570.1:p.Pro152HisfsTer?
XM_011538269.1:c.452del	XP_011536571.1:p.Pro151HisfsTer?
XM_011538267.3:c.*75del	XP_011536569.1:n.*75del
XM_011538268.2:c.455del	XP_011536570.1:p.Pro152HisfsTer?
XM_011538269.2:c.452del	XP_011536571.1:p.Pro151HisfsTer?
NM_052845.4:c.728del MANE Select	NP_443077.1:p.Pro243HisfsTer?
NR_038118.2:n.839del