Canonical Allele Identifier: CA2651275892

Gene: EXO1

Linked Data

• gnomAD v4: 1-241881973-CGTTTATCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241881974_241881981del , CM000663.2:g.241881974_241881981del	GRCh38
NC_000001.10:g.242045276_242045283del , CM000663.1:g.242045276_242045283del	GRCh37
NC_000001.9:g.240111899_240111906del	NCBI36
NG_029100.1:g.38784_38791del
NG_029100.2:g.38784_38791del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366548.8:c.2168_2175del MANE Select	ENSP00000355506.3:p.Arg723ProfsTer18
ENST00000348581.9:c.2168_2175del	ENSP00000311873.5:p.Arg723ProfsTer18
ENST00000366548.7:c.2168_2175del	ENSP00000355506.3:p.Arg723ProfsTer18
ENST00000518483.5:c.2168_2175del	ENSP00000430251.1:p.Arg723ProfsTer18
ENST00000521202.2:c.304+2631_304+2638del
NM_003686.4:c.2168_2175del	NP_003677.4:p.Arg723ProfsTer18
NM_006027.4:c.2168_2175del	NP_006018.4:p.Arg723ProfsTer18
NM_130398.3:c.2168_2175del	NP_569082.2:p.Arg723ProfsTer18
XM_005273350.2:c.2165_2172del	XP_005273407.1:p.Arg722ProfsTer18
XM_006711840.1:c.2168_2175del	XP_006711903.1:p.Arg723ProfsTer18
XM_011544321.1:c.2168_2175del	XP_011542623.1:p.Arg723ProfsTer18
XM_011544322.1:c.2168_2175del	XP_011542624.1:p.Arg723ProfsTer18
XM_011544323.1:c.2165_2172del	XP_011542625.1:p.Arg722ProfsTer18
XM_011544324.1:c.2048_2055del	XP_011542626.1:p.Arg683ProfsTer18
XM_011544325.1:c.1205_1212del	XP_011542627.1:p.Arg402ProfsTer18
XR_949162.1:n.2753_2760del
NM_001319224.1:c.2165_2172del	NP_001306153.1:p.Arg722ProfsTer18
XM_006711840.2:c.2168_2175del	XP_006711903.1:p.Arg723ProfsTer18
XM_011544321.2:c.2168_2175del	XP_011542623.1:p.Arg723ProfsTer18
XM_011544323.2:c.2165_2172del	XP_011542625.1:p.Arg722ProfsTer18
XM_011544324.2:c.2048_2055del	XP_011542626.1:p.Arg683ProfsTer18
XM_011544325.2:c.1205_1212del	XP_011542627.1:p.Arg402ProfsTer18
XM_017002793.2:c.2048_2055del	XP_016858282.1:p.Arg683ProfsTer18
NM_130398.4:c.2168_2175del MANE Select	NP_569082.2:p.Arg723ProfsTer18
NM_001319224.2:c.2165_2172del	NP_001306153.1:p.Arg722ProfsTer18