Canonical Allele Identifier: CA2627501906
Community Standard Title: NM_014967.5(FAN1):c.1673dup (p.Met558IlefsTer4)
Gene: FAN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30913953dup , CM000677.2:g.30913953dup GRCh38
NC_000015.9:g.31206156dup , CM000677.1:g.31206156dup GRCh37
NC_000015.8:g.28993448dup NCBI36
NG_032946.1:g.15102dup
NG_032946.2:g.15102dup

Transcript Alleles

HGVS Amino-acid Change
NM_014967.5:c.1673dup MANE Select NP_055782.3:p.Met558IlefsTer4
ENST00000362065.9:c.1673dup MANE Select ENSP00000354497.4:p.Met558IlefsTer4
NM_014967.4:c.1673dup NP_055782.3:p.Met558IlefsTer4
ENST00000362065.8:c.1673dup ENSP00000354497.4:p.Met558IlefsTer4
ENST00000565280.5:c.*514dup ENSP00000455573.1:n.*514dup
ENST00000568145.6:n.549dup
ENST00000602886.2:n.1850dup
ENST00000654013.1:n.1747dup
ENST00000654056.1:c.383dup ENSP00000499726.1:p.Met128IlefsTer4
ENST00000655421.1:n.1944dup
ENST00000656109.1:n.618dup
ENST00000656307.1:n.1925dup
ENST00000656435.1:c.1673dup ENSP00000499534.1:p.Met558IlefsTer4
ENST00000657391.1:c.1673dup ENSP00000499703.1:p.Met558IlefsTer4
ENST00000661974.1:c.965dup
ENST00000662114.1:n.2172dup
ENST00000664070.1:c.*1213dup ENSP00000499478.1:n.*1213dup
ENST00000664837.1:c.383dup ENSP00000499780.1:p.Met128IlefsTer4
ENST00000665705.1:n.1710dup
ENST00000665894.1:n.1933dup
ENST00000666852.1:n.1925dup
ENST00000667837.1:n.1404dup
ENST00000670074.1:c.*415dup ENSP00000499252.1:n.*415dup
ENST00000670849.1:c.1673dup ENSP00000499638.1:p.Met558IlefsTer4
XM_005254232.3:c.1673dup XP_005254289.1:p.Met558IlefsTer4
XM_005254232.4:c.1673dup XP_005254289.1:p.Met558IlefsTer4
XM_005254234.3:c.1673dup XP_005254291.1:p.Met558IlefsTer4
XM_005254234.5:c.1673dup XP_005254291.1:p.Met558IlefsTer4
XM_005254235.3:c.1673dup XP_005254292.1:p.Met558IlefsTer4
XM_005254236.2:c.1673dup XP_005254293.1:p.Met558IlefsTer4
XM_011521370.1:c.491dup XP_011519672.1:p.Met164IlefsTer4
XM_011521370.2:c.491dup XP_011519672.1:p.Met164IlefsTer4
XM_011521371.1:c.488dup XP_011519673.1:p.Met163IlefsTer4
XM_011521372.1:c.1673dup XP_011519674.1:p.Met558IlefsTer4
XM_011521372.2:c.1673dup XP_011519674.1:p.Met558IlefsTer4
XM_017022012.2:c.2dup XP_016877501.1:p.Met1IlefsTer4
XM_017022013.1:c.2dup XP_016877502.1:p.Met1IlefsTer4
XM_024449874.1:c.488dup XP_024305642.1:p.Met163IlefsTer4
XR_001751149.1:n.1972dup
XR_001751151.1:n.1968dup