Canonical Allele Identifier: CA951699838

Gene: MMAB

Linked Data

• gnomAD v3: 12-109556910-AGGCTGCT-A
• gnomAD v4: 12-109556910-AGGCTGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109556911_109556917del , CM000674.2:g.109556911_109556917del	GRCh38
NC_000012.11:g.109994716_109994722del , CM000674.1:g.109994716_109994722del	GRCh37
NC_000012.10:g.108479099_108479105del	NCBI36
NG_007096.1:g.21581_21587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*111_*117del MANE Select	ENSP00000445920.1:n.*111_*117del
ENST00000537496.5:c.*429_*435del	ENSP00000444793.1:n.*429_*435del
ENST00000540016.5:c.*111_*117del	ENSP00000474582.1:n.*111_*117del
ENST00000541763.6:c.1089_1095del	ENSP00000474981.1:n.1089_1095del
ENST00000544051.5:c.*745_*751del	ENSP00000438079.1:n.*745_*751del
ENST00000545712.6:c.*111_*117del	ENSP00000445920.1:n.*111_*117del
NM_052845.3:c.*111_*117del	NP_443077.1:n.*111_*117del
NR_038118.1:n.1024_1030del
XM_011538266.1:c.*211_*217del	XP_011536568.1:n.*211_*217del
XM_011538267.1:c.*211_*217del	XP_011536569.1:n.*211_*217del
XM_011538268.1:c.*111_*117del	XP_011536570.1:n.*111_*117del
XM_011538269.1:c.*111_*117del	XP_011536571.1:n.*111_*117del
XM_011538267.3:c.*211_*217del	XP_011536569.1:n.*211_*217del
XM_011538268.2:c.*111_*117del	XP_011536570.1:n.*111_*117del
XM_011538269.2:c.*111_*117del	XP_011536571.1:n.*111_*117del
NM_052845.4:c.*111_*117del MANE Select	NP_443077.1:n.*111_*117del
NR_038118.2:n.975_981del