Canonical Allele Identifier: CA1014053254

Gene: EXO1

Linked Data

• gnomAD v3: 1-241889767-TGCTCAGC-T
• gnomAD v4: 1-241889767-TGCTCAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241889768_241889774del , CM000663.2:g.241889768_241889774del	GRCh38
NC_000001.10:g.242053070_242053076del , CM000663.1:g.242053070_242053076del	GRCh37
NC_000001.9:g.240119693_240119699del	NCBI36
NG_029100.1:g.46578_46584del
NG_029100.2:g.46578_46584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366548.8:c.*168_*174del MANE Select	ENSP00000355506.3:n.*168_*174del
ENST00000348581.9:c.*168_*174del	ENSP00000311873.5:n.*168_*174del
ENST00000366548.7:c.*168_*174del	ENSP00000355506.3:n.*168_*174del
ENST00000518741.1:n.152-2756_152-2750del
NM_003686.4:c.*295_*301del	NP_003677.4:n.*295_*301del
NM_006027.4:c.*168_*174del	NP_006018.4:n.*168_*174del
NM_130398.3:c.*168_*174del	NP_569082.2:n.*168_*174del
XM_005273350.2:c.*168_*174del	XP_005273407.1:n.*168_*174del
XM_006711840.1:c.*168_*174del	XP_006711903.1:n.*168_*174del
XM_011544321.1:c.*168_*174del	XP_011542623.1:n.*168_*174del
XM_011544322.1:c.*168_*174del	XP_011542624.1:n.*168_*174del
XM_011544323.1:c.*168_*174del	XP_011542625.1:n.*168_*174del
XM_011544324.1:c.*168_*174del	XP_011542626.1:n.*168_*174del
XM_011544325.1:c.*168_*174del	XP_011542627.1:n.*168_*174del
XR_949162.1:n.2990+4261_2990+4267del
NM_001319224.1:c.*168_*174del	NP_001306153.1:n.*168_*174del
XM_006711840.2:c.*168_*174del	XP_006711903.1:n.*168_*174del
XM_011544321.2:c.*168_*174del	XP_011542623.1:n.*168_*174del
XM_011544323.2:c.*168_*174del	XP_011542625.1:n.*168_*174del
XM_011544324.2:c.*168_*174del	XP_011542626.1:n.*168_*174del
XM_011544325.2:c.*168_*174del	XP_011542627.1:n.*168_*174del
XM_017002793.2:c.*168_*174del	XP_016858282.1:n.*168_*174del
NM_130398.4:c.*168_*174del MANE Select	NP_569082.2:n.*168_*174del
NM_001319224.2:c.*168_*174del	NP_001306153.1:n.*168_*174del