Canonical Allele Identifier: CA2651275893

Gene: EXO1

Linked Data

• gnomAD v4: 1-241881974-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241881977del , CM000663.2:g.241881977del	GRCh38
NC_000001.10:g.242045279del , CM000663.1:g.242045279del	GRCh37
NC_000001.9:g.240111902del	NCBI36
NG_029100.1:g.38787del
NG_029100.2:g.38787del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366548.8:c.2171del MANE Select	ENSP00000355506.3:p.Leu724TyrfsTer11
ENST00000348581.9:c.2171del	ENSP00000311873.5:p.Leu724TyrfsTer11
ENST00000366548.7:c.2171del	ENSP00000355506.3:p.Leu724TyrfsTer11
ENST00000518483.5:c.2171del	ENSP00000430251.1:p.Leu724TyrfsTer11
ENST00000521202.2:c.304+2634del
NM_003686.4:c.2171del	NP_003677.4:p.Leu724TyrfsTer11
NM_006027.4:c.2171del	NP_006018.4:p.Leu724TyrfsTer11
NM_130398.3:c.2171del	NP_569082.2:p.Leu724TyrfsTer11
XM_005273350.2:c.2168del	XP_005273407.1:p.Leu723TyrfsTer11
XM_006711840.1:c.2171del	XP_006711903.1:p.Leu724TyrfsTer11
XM_011544321.1:c.2171del	XP_011542623.1:p.Leu724TyrfsTer11
XM_011544322.1:c.2171del	XP_011542624.1:p.Leu724TyrfsTer11
XM_011544323.1:c.2168del	XP_011542625.1:p.Leu723TyrfsTer11
XM_011544324.1:c.2051del	XP_011542626.1:p.Leu684TyrfsTer11
XM_011544325.1:c.1208del	XP_011542627.1:p.Leu403TyrfsTer11
XR_949162.1:n.2756del
NM_001319224.1:c.2168del	NP_001306153.1:p.Leu723TyrfsTer11
XM_006711840.2:c.2171del	XP_006711903.1:p.Leu724TyrfsTer11
XM_011544321.2:c.2171del	XP_011542623.1:p.Leu724TyrfsTer11
XM_011544323.2:c.2168del	XP_011542625.1:p.Leu723TyrfsTer11
XM_011544324.2:c.2051del	XP_011542626.1:p.Leu684TyrfsTer11
XM_011544325.2:c.1208del	XP_011542627.1:p.Leu403TyrfsTer11
XM_017002793.2:c.2051del	XP_016858282.1:p.Leu684TyrfsTer11
NM_130398.4:c.2171del MANE Select	NP_569082.2:p.Leu724TyrfsTer11
NM_001319224.2:c.2168del	NP_001306153.1:p.Leu723TyrfsTer11