Canonical Allele Identifier: CA7450091

Gene: FAN1

Linked Data

• dbSNP Id: rs749848190
• ExAC: 15:31197440 CTGAT / C
• gnomAD v2: 15-31197440-CTGAT-C
• gnomAD v3: 15-30905237-CTGAT-C
• gnomAD v4: 15-30905237-CTGAT-C
• MyVariant Identifiers: chr15:g.31197441_31197444del (hg19) ; chr15:g.30905238_30905241del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30905242_30905245del , CM000677.2:g.30905242_30905245del	GRCh38
NC_000015.9:g.31197445_31197448del , CM000677.1:g.31197445_31197448del	GRCh37
NC_000015.8:g.28984737_28984740del	NCBI36
NG_032946.1:g.6391_6394del
NG_032946.2:g.6391_6394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362065.9:c.579_582del MANE Select	ENSP00000354497.4:p.Asp194ThrfsTer27
ENST00000561607.6:c.579_582del	ENSP00000454223.1:p.Asp194ThrfsTer27
ENST00000562892.2:c.-57+652_-57+655del	ENSP00000457680.2:n.-57+652_-57+655del
ENST00000568145.6:n.110+652_110+655del
ENST00000602886.2:n.756_759del
ENST00000654013.1:n.855_858del
ENST00000654056.1:c.-57+652_-57+655del	ENSP00000499726.1:n.-57+652_-57+655del
ENST00000655421.1:n.850_853del
ENST00000656109.1:n.179+652_179+655del
ENST00000656307.1:n.831_834del
ENST00000656435.1:c.579_582del	ENSP00000499534.1:p.Asp194ThrfsTer27
ENST00000657391.1:c.579_582del	ENSP00000499703.1:p.Asp194ThrfsTer27
ENST00000658773.1:c.579_582del	ENSP00000499742.1:p.Asp194ThrfsTer27
ENST00000661974.1:c.73_76del
ENST00000662114.1:n.835_838del
ENST00000664070.1:c.579_582del	ENSP00000499478.1:p.Asp194ThrfsTer27
ENST00000664837.1:c.-57+652_-57+655del	ENSP00000499780.1:n.-57+652_-57+655del
ENST00000665705.1:n.818_821del
ENST00000665894.1:n.839_842del
ENST00000666143.1:c.-229-483_-229-480del	ENSP00000499576.1:n.-229-483_-229-480del
ENST00000666852.1:n.831_834del
ENST00000667837.1:n.854_857del
ENST00000670074.1:c.579_582del	ENSP00000499252.1:p.Asp194ThrfsTer27
ENST00000670849.1:c.579_582del	ENSP00000499638.1:p.Asp194ThrfsTer27
ENST00000362065.8:c.579_582del	ENSP00000354497.4:p.Asp194ThrfsTer27
ENST00000561594.5:c.579_582del	ENSP00000455983.1:p.Asp194ThrfsTer27
ENST00000561607.5:c.579_582del	ENSP00000454223.1:p.Asp194ThrfsTer27
ENST00000562892.1:c.52+652_52+655del	ENSP00000457680.1:n.52+652_52+655del
ENST00000565280.5:c.579_582del	ENSP00000455573.1:p.Asp194ThrfsTer27
ENST00000565466.5:c.579_582del	ENSP00000454544.1:p.Asp194ThrfsTer27
NM_001146094.1:c.579_582del	NP_001139566.1:p.Asp194ThrfsTer27
NM_001146095.1:c.579_582del	NP_001139567.1:p.Asp194ThrfsTer27
NM_001146096.1:c.579_582del	NP_001139568.1:p.Asp194ThrfsTer27
NM_014967.4:c.579_582del	NP_055782.3:p.Asp194ThrfsTer27
XM_005254232.3:c.579_582del	XP_005254289.1:p.Asp194ThrfsTer27
XM_005254234.3:c.579_582del	XP_005254291.1:p.Asp194ThrfsTer27
XM_005254235.3:c.579_582del	XP_005254292.1:p.Asp194ThrfsTer27
XM_005254236.2:c.579_582del	XP_005254293.1:p.Asp194ThrfsTer27
XM_011521370.1:c.52+652_52+655del	XP_011519672.1:n.52+652_52+655del
XM_011521371.1:c.-741_-738del	XP_011519673.1:n.-741_-738del
XM_011521372.1:c.579_582del	XP_011519674.1:p.Asp194ThrfsTer27
XM_005254232.4:c.579_582del	XP_005254289.1:p.Asp194ThrfsTer27
XM_005254234.5:c.579_582del	XP_005254291.1:p.Asp194ThrfsTer27
XM_011521370.2:c.52+652_52+655del	XP_011519672.1:n.52+652_52+655del
XM_011521372.2:c.579_582del	XP_011519674.1:p.Asp194ThrfsTer27
XM_017022012.2:c.-891_-888del	XP_016877501.1:n.-891_-888del
XM_017022013.1:c.-891_-888del	XP_016877502.1:n.-891_-888del
XM_024449874.1:c.-741_-738del	XP_024305642.1:n.-741_-738del
XR_001751149.1:n.878_881del
XR_001751151.1:n.874_877del
NM_014967.5:c.579_582del MANE Select	NP_055782.3:p.Asp194ThrfsTer27
NM_001146094.2:c.579_582del	NP_001139566.1:p.Asp194ThrfsTer27
NM_001146096.2:c.579_582del	NP_001139568.1:p.Asp194ThrfsTer27