Canonical Allele Identifier: CA733688325

Gene: EXO1

Linked Data

• dbSNP Id: rs1186834851
• gnomAD v3: 1-241889760-G-GT
• gnomAD v4: 1-241889760-G-GT
• MyVariant Identifiers: chr1:g.242053062_242053063insT (hg19) ; chr1:g.241889760_241889761insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241889767dup , CM000663.2:g.241889767dup	GRCh38
NC_000001.10:g.242053069dup , CM000663.1:g.242053069dup	GRCh37
NC_000001.9:g.240119692dup	NCBI36
NG_029100.1:g.46577dup
NG_029100.2:g.46577dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366548.8:c.*167dup MANE Select	ENSP00000355506.3:n.*167dup
ENST00000348581.9:c.*167dup	ENSP00000311873.5:n.*167dup
ENST00000366548.7:c.*167dup	ENSP00000355506.3:n.*167dup
ENST00000518741.1:n.152-2757dup
NM_003686.4:c.*294dup	NP_003677.4:n.*294dup
NM_006027.4:c.*167dup	NP_006018.4:n.*167dup
NM_130398.3:c.*167dup	NP_569082.2:n.*167dup
XM_005273350.2:c.*167dup	XP_005273407.1:n.*167dup
XM_006711840.1:c.*167dup	XP_006711903.1:n.*167dup
XM_011544321.1:c.*167dup	XP_011542623.1:n.*167dup
XM_011544322.1:c.*167dup	XP_011542624.1:n.*167dup
XM_011544323.1:c.*167dup	XP_011542625.1:n.*167dup
XM_011544324.1:c.*167dup	XP_011542626.1:n.*167dup
XM_011544325.1:c.*167dup	XP_011542627.1:n.*167dup
XR_949162.1:n.2990+4260dup
NM_001319224.1:c.*167dup	NP_001306153.1:n.*167dup
XM_006711840.2:c.*167dup	XP_006711903.1:n.*167dup
XM_011544321.2:c.*167dup	XP_011542623.1:n.*167dup
XM_011544323.2:c.*167dup	XP_011542625.1:n.*167dup
XM_011544324.2:c.*167dup	XP_011542626.1:n.*167dup
XM_011544325.2:c.*167dup	XP_011542627.1:n.*167dup
XM_017002793.2:c.*167dup	XP_016858282.1:n.*167dup
NM_130398.4:c.*167dup MANE Select	NP_569082.2:n.*167dup
NM_001319224.2:c.*167dup	NP_001306153.1:n.*167dup