Canonical Allele Identifier: CA2698412030
Gene: EXO1 HGNC NCBI

Linked Data

dbSNP Id: rs2148559366

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241889648del , CM000663.2:g.241889648del GRCh38
NC_000001.10:g.242052950del , CM000663.1:g.242052950del GRCh37
NC_000001.9:g.240119573del NCBI36
NG_029100.1:g.46458del
NG_029100.2:g.46458del

Transcript Alleles

HGVS Amino-acid change
ENST00000366548.8:c.*48del MANE Select ENSP00000355506.3:n.*48del
ENST00000348581.9:c.*48del ENSP00000311873.5:n.*48del
ENST00000366548.7:c.*48del ENSP00000355506.3:n.*48del
ENST00000518483.5:c.*175del ENSP00000430251.1:n.*175del
ENST00000518741.1:n.152-2876del
NM_003686.4:c.*175del NP_003677.4:n.*175del
NM_006027.4:c.*48del NP_006018.4:n.*48del
NM_130398.3:c.*48del NP_569082.2:n.*48del
XM_005273350.2:c.*48del XP_005273407.1:n.*48del
XM_006711840.1:c.*48del XP_006711903.1:n.*48del
XM_011544321.1:c.*48del XP_011542623.1:n.*48del
XM_011544322.1:c.*48del XP_011542624.1:n.*48del
XM_011544323.1:c.*48del XP_011542625.1:n.*48del
XM_011544324.1:c.*48del XP_011542626.1:n.*48del
XM_011544325.1:c.*48del XP_011542627.1:n.*48del
XR_949162.1:n.2990+4141del
NM_001319224.1:c.*48del NP_001306153.1:n.*48del
XM_006711840.2:c.*48del XP_006711903.1:n.*48del
XM_011544321.2:c.*48del XP_011542623.1:n.*48del
XM_011544323.2:c.*48del XP_011542625.1:n.*48del
XM_011544324.2:c.*48del XP_011542626.1:n.*48del
XM_011544325.2:c.*48del XP_011542627.1:n.*48del
XM_017002793.2:c.*48del XP_016858282.1:n.*48del
NM_130398.4:c.*48del MANE Select NP_569082.2:n.*48del
NM_001319224.2:c.*48del NP_001306153.1:n.*48del