Canonical Allele Identifier: CA2651276549

Gene: EXO1

Linked Data

• gnomAD v4: 1-241889556-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241889558_241889559del , CM000663.2:g.241889558_241889559del	GRCh38
NC_000001.10:g.242052860_242052861del , CM000663.1:g.242052860_242052861del	GRCh37
NC_000001.9:g.240119483_240119484del	NCBI36
NG_029100.1:g.46368_46369del
NG_029100.2:g.46368_46369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366548.8:c.2499_2500del MANE Select	ENSP00000355506.3:p.Asn833LysfsTer3
ENST00000348581.9:c.2499_2500del	ENSP00000311873.5:p.Asn833LysfsTer3
ENST00000366548.7:c.2499_2500del	ENSP00000355506.3:p.Asn833LysfsTer3
ENST00000518483.5:c.*85_*86del	ENSP00000430251.1:n.*85_*86del
ENST00000518741.1:n.152-2966_152-2965del
ENST00000521202.2:c.592_593del
NM_003686.4:c.*85_*86del	NP_003677.4:n.*85_*86del
NM_006027.4:c.2499_2500del	NP_006018.4:p.Asn833LysfsTer3
NM_130398.3:c.2499_2500del	NP_569082.2:p.Asn833LysfsTer3
XM_005273350.2:c.2496_2497del	XP_005273407.1:p.Asn832LysfsTer3
XM_006711840.1:c.2499_2500del	XP_006711903.1:p.Asn833LysfsTer3
XM_011544321.1:c.2499_2500del	XP_011542623.1:p.Asn833LysfsTer3
XM_011544322.1:c.2499_2500del	XP_011542624.1:p.Asn833LysfsTer3
XM_011544323.1:c.2496_2497del	XP_011542625.1:p.Asn832LysfsTer3
XM_011544324.1:c.2379_2380del	XP_011542626.1:p.Asn793LysfsTer3
XM_011544325.1:c.1536_1537del	XP_011542627.1:p.Asn512LysfsTer3
XR_949162.1:n.2990+4051_2990+4052del
NM_001319224.1:c.2496_2497del	NP_001306153.1:p.Asn832LysfsTer3
XM_006711840.2:c.2499_2500del	XP_006711903.1:p.Asn833LysfsTer3
XM_011544321.2:c.2499_2500del	XP_011542623.1:p.Asn833LysfsTer3
XM_011544323.2:c.2496_2497del	XP_011542625.1:p.Asn832LysfsTer3
XM_011544324.2:c.2379_2380del	XP_011542626.1:p.Asn793LysfsTer3
XM_011544325.2:c.1536_1537del	XP_011542627.1:p.Asn512LysfsTer3
XM_017002793.2:c.2379_2380del	XP_016858282.1:p.Asn793LysfsTer3
NM_130398.4:c.2499_2500del MANE Select	NP_569082.2:p.Asn833LysfsTer3
NM_001319224.2:c.2496_2497del	NP_001306153.1:p.Asn832LysfsTer3