Canonical Allele Identifier: CA2620810730

Gene: MMAB

Linked Data

• gnomAD v4: 12-109561215-TCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561216_109561218del , CM000674.2:g.109561216_109561218del	GRCh38
NC_000012.11:g.109999021_109999023del , CM000674.1:g.109999021_109999023del	GRCh37
NC_000012.10:g.108483404_108483406del	NCBI36
NG_007096.1:g.17280_17282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.520-114_520-112del MANE Select	ENSP00000445920.1:n.520-114_520-112del
ENST00000537496.5:c.*84+25_*84+27del	ENSP00000444793.1:n.*84+25_*84+27del
ENST00000540016.5:c.364-114_364-112del	ENSP00000474582.1:n.364-114_364-112del
ENST00000541763.6:c.631_633del	ENSP00000474981.1:n.631_633del
ENST00000544051.5:c.*400+25_*400+27del	ENSP00000438079.1:n.*400+25_*400+27del
ENST00000545712.6:c.520-114_520-112del	ENSP00000445920.1:n.520-114_520-112del
NM_052845.3:c.520-114_520-112del	NP_443077.1:n.520-114_520-112del
NR_038118.1:n.679+25_679+27del
XM_011538266.1:c.364+25_364+27del	XP_011536568.1:n.364+25_364+27del
XM_011538267.1:c.364+25_364+27del	XP_011536569.1:n.364+25_364+27del
XM_011538268.1:c.247-114_247-112del	XP_011536570.1:n.247-114_247-112del
XM_011538269.1:c.244-114_244-112del	XP_011536571.1:n.244-114_244-112del
XM_011538267.3:c.364+25_364+27del	XP_011536569.1:n.364+25_364+27del
XM_011538268.2:c.247-114_247-112del	XP_011536570.1:n.247-114_247-112del
XM_011538269.2:c.244-114_244-112del	XP_011536571.1:n.244-114_244-112del
XM_024448961.1:c.520-114_520-112del	XP_024304729.1:n.520-114_520-112del
NM_052845.4:c.520-114_520-112del MANE Select	NP_443077.1:n.520-114_520-112del
NR_038118.2:n.630+25_630+27del