Canonical Allele Identifier: CA2620810062

Gene: MMAB

Linked Data

• gnomAD v4: 12-109556998-GGATCCTCCAAGCTCCCACTTTCTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557002_109557026del , CM000674.2:g.109557002_109557026del	GRCh38
NC_000012.11:g.109994807_109994831del , CM000674.1:g.109994807_109994831del	GRCh37
NC_000012.10:g.108479190_108479214del	NCBI36
NG_007096.1:g.21475_21499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*5_*29del MANE Select	ENSP00000445920.1:n.*5_*29del
ENST00000537496.5:c.*323_*347del	ENSP00000444793.1:n.*323_*347del
ENST00000540016.5:c.*5_*29del	ENSP00000474582.1:n.*5_*29del
ENST00000541763.6:c.983_1007del	ENSP00000474981.1:n.983_1007del
ENST00000544051.5:c.*639_*663del	ENSP00000438079.1:n.*639_*663del
ENST00000545712.6:c.*5_*29del	ENSP00000445920.1:n.*5_*29del
NM_052845.3:c.*5_*29del	NP_443077.1:n.*5_*29del
NR_038118.1:n.918_942del
XM_011538266.1:c.*105_*129del	XP_011536568.1:n.*105_*129del
XM_011538267.1:c.*105_*129del	XP_011536569.1:n.*105_*129del
XM_011538268.1:c.*5_*29del	XP_011536570.1:n.*5_*29del
XM_011538269.1:c.*5_*29del	XP_011536571.1:n.*5_*29del
XM_011538267.3:c.*105_*129del	XP_011536569.1:n.*105_*129del
XM_011538268.2:c.*5_*29del	XP_011536570.1:n.*5_*29del
XM_011538269.2:c.*5_*29del	XP_011536571.1:n.*5_*29del
NM_052845.4:c.*5_*29del MANE Select	NP_443077.1:n.*5_*29del
NR_038118.2:n.869_893del