Canonical Allele Identifier: CA2739279471

Gene: FAN1

Linked Data

• ClinVar Variation Id: 2849137
• ClinVar RCV Id: RCV003695571

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30905539_30905540delinsCT , CM000677.2:g.30905539_30905540delinsCT	GRCh38
NC_000015.9:g.31197742_31197743delinsCT , CM000677.1:g.31197742_31197743delinsCT	GRCh37
NC_000015.8:g.28985034_28985035delinsCT	NCBI36
NG_032946.1:g.6688_6689delinsCT
NG_032946.2:g.6688_6689delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362065.9:c.876_877delinsCT MANE Select	ENSP00000354497.4:p.Val293Phe
ENST00000561607.6:c.876_877delinsCT	ENSP00000454223.1:p.Val293Phe
ENST00000562892.2:c.-57+949_-57+950delinsCT	ENSP00000457680.2:n.-57+949_-57+950delinsCT
ENST00000568145.6:n.110+949_110+950delinsCT
ENST00000602886.2:n.1053_1054delinsCT
ENST00000654013.1:n.1152_1153delinsCT
ENST00000654056.1:c.-57+949_-57+950delinsCT	ENSP00000499726.1:n.-57+949_-57+950delinsCT
ENST00000655421.1:n.1147_1148delinsCT
ENST00000656109.1:n.179+949_179+950delinsCT
ENST00000656307.1:n.1128_1129delinsCT
ENST00000656435.1:c.876_877delinsCT	ENSP00000499534.1:p.Val293Phe
ENST00000657391.1:c.876_877delinsCT	ENSP00000499703.1:p.Val293Phe
ENST00000658773.1:c.876_877delinsCT	ENSP00000499742.1:p.Val293Phe
ENST00000661974.1:c.370_371delinsCT
ENST00000662114.1:n.1132_1133delinsCT
ENST00000664070.1:c.876_877delinsCT	ENSP00000499478.1:p.Val293Phe
ENST00000664837.1:c.-57+949_-57+950delinsCT	ENSP00000499780.1:n.-57+949_-57+950delinsCT
ENST00000665705.1:n.1115_1116delinsCT
ENST00000665894.1:n.1136_1137delinsCT
ENST00000666143.1:c.-229-186_-229-185delinsCT	ENSP00000499576.1:n.-229-186_-229-185delinsCT
ENST00000666852.1:n.1128_1129delinsCT
ENST00000667837.1:n.965+186_965+187delinsCT
ENST00000670074.1:c.690+186_690+187delinsCT	ENSP00000499252.1:n.690+186_690+187delinsCT
ENST00000670849.1:c.876_877delinsCT	ENSP00000499638.1:p.Val293Phe
ENST00000362065.8:c.876_877delinsCT	ENSP00000354497.4:p.Val293Phe
ENST00000561594.5:c.876_877delinsCT	ENSP00000455983.1:p.Val293Phe
ENST00000561607.5:c.876_877delinsCT	ENSP00000454223.1:p.Val293Phe
ENST00000562892.1:c.52+949_52+950delinsCT	ENSP00000457680.1:n.52+949_52+950delinsCT
ENST00000565280.5:c.876_877delinsCT	ENSP00000455573.1:p.Val293Phe
ENST00000565466.5:c.876_877delinsCT	ENSP00000454544.1:p.Val293Phe
NM_001146094.1:c.876_877delinsCT	NP_001139566.1:p.Val293Phe
NM_001146095.1:c.876_877delinsCT	NP_001139567.1:p.Val293Phe
NM_001146096.1:c.876_877delinsCT	NP_001139568.1:p.Val293Phe
NM_014967.4:c.876_877delinsCT	NP_055782.3:p.Val293Phe
XM_005254232.3:c.876_877delinsCT	XP_005254289.1:p.Val293Phe
XM_005254234.3:c.876_877delinsCT	XP_005254291.1:p.Val293Phe
XM_005254235.3:c.876_877delinsCT	XP_005254292.1:p.Val293Phe
XM_005254236.2:c.876_877delinsCT	XP_005254293.1:p.Val293Phe
XM_011521370.1:c.52+949_52+950delinsCT	XP_011519672.1:n.52+949_52+950delinsCT
XM_011521371.1:c.-444_-443delinsCT	XP_011519673.1:n.-444_-443delinsCT
XM_011521372.1:c.876_877delinsCT	XP_011519674.1:p.Val293Phe
XM_005254232.4:c.876_877delinsCT	XP_005254289.1:p.Val293Phe
XM_005254234.5:c.876_877delinsCT	XP_005254291.1:p.Val293Phe
XM_011521370.2:c.52+949_52+950delinsCT	XP_011519672.1:n.52+949_52+950delinsCT
XM_011521372.2:c.876_877delinsCT	XP_011519674.1:p.Val293Phe
XM_017022012.2:c.-594_-593delinsCT	XP_016877501.1:n.-594_-593delinsCT
XM_017022013.1:c.-594_-593delinsCT	XP_016877502.1:n.-594_-593delinsCT
XM_024449874.1:c.-444_-443delinsCT	XP_024305642.1:n.-444_-443delinsCT
XR_001751149.1:n.1175_1176delinsCT
XR_001751151.1:n.1171_1172delinsCT
NM_014967.5:c.876_877delinsCT MANE Select	NP_055782.3:p.Val293Phe
NM_001146094.2:c.876_877delinsCT	NP_001139566.1:p.Val293Phe
NM_001146096.2:c.876_877delinsCT	NP_001139568.1:p.Val293Phe