Canonical Allele Identifier: CA951699797

Gene: MMAB

Linked Data

• gnomAD v3: 12-109556890-C-CTCGGTGGTCGCCGTATCATT
• gnomAD v4: 12-109556890-C-CTCGGTGGTCGCCGTATCATT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109556890_109556891insTCGGTGGTCGCCGTATCATT , CM000674.2:g.109556890_109556891insTCGGTGGTCGCCGTATCATT	GRCh38
NC_000012.11:g.109994695_109994696insTCGGTGGTCGCCGTATCATT , CM000674.1:g.109994695_109994696insTCGGTGGTCGCCGTATCATT	GRCh37
NC_000012.10:g.108479078_108479079insTCGGTGGTCGCCGTATCATT	NCBI36
NG_007096.1:g.21607_21608insAATGATACGGCGACCACCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*137_*138insAATGATACGGCGACCACCGA MANE Select	ENSP00000445920.1:n.*137_*138insAATGATACGGCGACCACCGA
ENST00000537496.5:c.*455_*456insAATGATACGGCGACCACCGA	ENSP00000444793.1:n.*455_*456insAATGATACGGCGACCACCGA
ENST00000540016.5:c.*137_*138insAATGATACGGCGACCACCGA	ENSP00000474582.1:n.*137_*138insAATGATACGGCGACCACCGA
ENST00000541763.6:c.1115_1116insAATGATACGGCGACCACCGA	ENSP00000474981.1:n.1115_1116insAATGATACGGCGACCACCGA
ENST00000544051.5:c.*771_*772insAATGATACGGCGACCACCGA	ENSP00000438079.1:n.*771_*772insAATGATACGGCGACCACCGA
ENST00000545712.6:c.*137_*138insAATGATACGGCGACCACCGA	ENSP00000445920.1:n.*137_*138insAATGATACGGCGACCACCGA
NM_052845.3:c.*137_*138insAATGATACGGCGACCACCGA	NP_443077.1:n.*137_*138insAATGATACGGCGACCACCGA
NR_038118.1:n.1050_1051insAATGATACGGCGACCACCGA
XM_011538266.1:c.*237_*238insAATGATACGGCGACCACCGA	XP_011536568.1:n.*237_*238insAATGATACGGCGACCACCGA
XM_011538267.1:c.*237_*238insAATGATACGGCGACCACCGA	XP_011536569.1:n.*237_*238insAATGATACGGCGACCACCGA
XM_011538268.1:c.*137_*138insAATGATACGGCGACCACCGA	XP_011536570.1:n.*137_*138insAATGATACGGCGACCACCGA
XM_011538269.1:c.*137_*138insAATGATACGGCGACCACCGA	XP_011536571.1:n.*137_*138insAATGATACGGCGACCACCGA
XM_011538267.3:c.*237_*238insAATGATACGGCGACCACCGA	XP_011536569.1:n.*237_*238insAATGATACGGCGACCACCGA
XM_011538268.2:c.*137_*138insAATGATACGGCGACCACCGA	XP_011536570.1:n.*137_*138insAATGATACGGCGACCACCGA
XM_011538269.2:c.*137_*138insAATGATACGGCGACCACCGA	XP_011536571.1:n.*137_*138insAATGATACGGCGACCACCGA
NM_052845.4:c.*137_*138insAATGATACGGCGACCACCGA MANE Select	NP_443077.1:n.*137_*138insAATGATACGGCGACCACCGA
NR_038118.2:n.1001_1002insAATGATACGGCGACCACCGA