Canonical Allele Identifier: CA2651276558

Gene: EXO1

Linked Data

• gnomAD v4: 1-241889567-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241889570_241889571del , CM000663.2:g.241889570_241889571del	GRCh38
NC_000001.10:g.242052872_242052873del , CM000663.1:g.242052872_242052873del	GRCh37
NC_000001.9:g.240119495_240119496del	NCBI36
NG_029100.1:g.46380_46381del
NG_029100.2:g.46380_46381del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366548.8:c.2511_2512del MANE Select	ENSP00000355506.3:p.Cys837TrpfsTer24
ENST00000348581.9:c.2511_2512del	ENSP00000311873.5:p.Cys837TrpfsTer24
ENST00000366548.7:c.2511_2512del	ENSP00000355506.3:p.Cys837TrpfsTer24
ENST00000518483.5:c.*97_*98del	ENSP00000430251.1:n.*97_*98del
ENST00000518741.1:n.152-2954_152-2953del
ENST00000521202.2:c.604_605del
NM_003686.4:c.*97_*98del	NP_003677.4:n.*97_*98del
NM_006027.4:c.2511_2512del	NP_006018.4:p.Cys837TrpfsTer24
NM_130398.3:c.2511_2512del	NP_569082.2:p.Cys837TrpfsTer24
XM_005273350.2:c.2508_2509del	XP_005273407.1:p.Cys836TrpfsTer24
XM_006711840.1:c.2511_2512del	XP_006711903.1:p.Cys837TrpfsTer24
XM_011544321.1:c.2511_2512del	XP_011542623.1:p.Cys837TrpfsTer24
XM_011544322.1:c.2511_2512del	XP_011542624.1:p.Cys837TrpfsTer24
XM_011544323.1:c.2508_2509del	XP_011542625.1:p.Cys836TrpfsTer24
XM_011544324.1:c.2391_2392del	XP_011542626.1:p.Cys797TrpfsTer24
XM_011544325.1:c.1548_1549del	XP_011542627.1:p.Cys516TrpfsTer24
XR_949162.1:n.2990+4063_2990+4064del
NM_001319224.1:c.2508_2509del	NP_001306153.1:p.Cys836TrpfsTer24
XM_006711840.2:c.2511_2512del	XP_006711903.1:p.Cys837TrpfsTer24
XM_011544321.2:c.2511_2512del	XP_011542623.1:p.Cys837TrpfsTer24
XM_011544323.2:c.2508_2509del	XP_011542625.1:p.Cys836TrpfsTer24
XM_011544324.2:c.2391_2392del	XP_011542626.1:p.Cys797TrpfsTer24
XM_011544325.2:c.1548_1549del	XP_011542627.1:p.Cys516TrpfsTer24
XM_017002793.2:c.2391_2392del	XP_016858282.1:p.Cys797TrpfsTer24
NM_130398.4:c.2511_2512del MANE Select	NP_569082.2:p.Cys837TrpfsTer24
NM_001319224.2:c.2508_2509del	NP_001306153.1:p.Cys836TrpfsTer24