Canonical Allele Identifier: CA2620810513

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557243-C-CAATGTGCCCAGAGTGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557243_109557244insAATGTGCCCAGAGTGCG , CM000674.2:g.109557243_109557244insAATGTGCCCAGAGTGCG	GRCh38
NC_000012.11:g.109995048_109995049insAATGTGCCCAGAGTGCG , CM000674.1:g.109995048_109995049insAATGTGCCCAGAGTGCG	GRCh37
NC_000012.10:g.108479431_108479432insAATGTGCCCAGAGTGCG	NCBI36
NG_007096.1:g.21254_21255insCGCACTCTGGGCACATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.645-108_645-107insCGCACTCTGGGCACATT MANE Select	ENSP00000445920.1:n.645-108_645-107insCGCACTCTGGGCACATT
ENST00000537496.5:c.*210-108_*210-107insCGCACTCTGGGCACATT	ENSP00000444793.1:n.*210-108_*210-107insCGCACTCTGGGCACATT
ENST00000540016.5:c.489-108_489-107insCGCACTCTGGGCACATT	ENSP00000474582.1:n.489-108_489-107insCGCACTCTGGGCACATT
ENST00000541763.6:c.870-108_870-107insCGCACTCTGGGCACATT	ENSP00000474981.1:n.870-108_870-107insCGCACTCTGGGCACATT
ENST00000544051.5:c.*526-108_*526-107insCGCACTCTGGGCACATT	ENSP00000438079.1:n.*526-108_*526-107insCGCACTCTGGGCACATT
ENST00000545712.6:c.645-108_645-107insCGCACTCTGGGCACATT	ENSP00000445920.1:n.645-108_645-107insCGCACTCTGGGCACATT
NM_052845.3:c.645-108_645-107insCGCACTCTGGGCACATT	NP_443077.1:n.645-108_645-107insCGCACTCTGGGCACATT
NR_038118.1:n.805-108_805-107insCGCACTCTGGGCACATT
XM_011538266.1:c.490-108_490-107insCGCACTCTGGGCACATT	XP_011536568.1:n.490-108_490-107insCGCACTCTGGGCACATT
XM_011538267.1:c.490-108_490-107insCGCACTCTGGGCACATT	XP_011536569.1:n.490-108_490-107insCGCACTCTGGGCACATT
XM_011538268.1:c.372-108_372-107insCGCACTCTGGGCACATT	XP_011536570.1:n.372-108_372-107insCGCACTCTGGGCACATT
XM_011538269.1:c.369-108_369-107insCGCACTCTGGGCACATT	XP_011536571.1:n.369-108_369-107insCGCACTCTGGGCACATT
XM_011538267.3:c.490-108_490-107insCGCACTCTGGGCACATT	XP_011536569.1:n.490-108_490-107insCGCACTCTGGGCACATT
XM_011538268.2:c.372-108_372-107insCGCACTCTGGGCACATT	XP_011536570.1:n.372-108_372-107insCGCACTCTGGGCACATT
XM_011538269.2:c.369-108_369-107insCGCACTCTGGGCACATT	XP_011536571.1:n.369-108_369-107insCGCACTCTGGGCACATT
NM_052845.4:c.645-108_645-107insCGCACTCTGGGCACATT MANE Select	NP_443077.1:n.645-108_645-107insCGCACTCTGGGCACATT
NR_038118.2:n.756-108_756-107insCGCACTCTGGGCACATT