Canonical Allele Identifier: CA7450720
Community Standard Title: NM_014967.5(FAN1):c.2616del (p.Asp873ThrfsTer17)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30929226del , CM000677.2:g.30929226del GRCh38
NC_000015.9:g.31221429del , CM000677.1:g.31221429del GRCh37
NC_000015.8:g.29008721del NCBI36
NG_032946.1:g.30375del
NG_032946.2:g.30375del

Transcript Alleles

HGVS Amino-acid Change
NM_014967.5:c.2616del (FAN1) MANE Select NP_055782.3:p.Asp873ThrfsTer17
ENST00000362065.9:c.2616del (FAN1) MANE Select ENSP00000354497.4:p.Asp873ThrfsTer17
NM_014967.4:c.2616del (FAN1) NP_055782.3:p.Asp873ThrfsTer17
ENST00000362065.8:c.2616del (FAN1) ENSP00000354497.4:p.Asp873ThrfsTer17
ENST00000562881.1:n.257del (FAN1)
ENST00000562881.2:n.4743del (FAN1)
ENST00000565280.5:c.*1457del (FAN1) ENSP00000455573.1:n.*1457del
ENST00000568145.5:n.568del (FAN1)
ENST00000654056.1:c.*460del (FAN1) ENSP00000499726.1:n.*460del
ENST00000655421.1:n.5997del (FAN1)
ENST00000656307.1:n.5481del (FAN1)
ENST00000656435.1:c.2616del (FAN1) ENSP00000499534.1:p.Asp873ThrfsTer17
ENST00000657391.1:c.2616del (FAN1) ENSP00000499703.1:p.Asp873ThrfsTer17
ENST00000661974.1:c.4521del (FAN1)
ENST00000664070.1:c.*2156del (FAN1) ENSP00000499478.1:n.*2156del
ENST00000664837.1:c.1326del (FAN1) ENSP00000499780.1:p.Asp443ThrfsTer17
ENST00000667837.1:n.2428del (FAN1)
ENST00000670074.1:c.*1358del (FAN1) ENSP00000499252.1:n.*1358del
ENST00000670849.1:c.2616del (FAN1) ENSP00000499638.1:p.Asp873ThrfsTer17
XM_005254232.3:c.2616del (FAN1) XP_005254289.1:p.Asp873ThrfsTer17
XM_005254232.4:c.2616del (FAN1) XP_005254289.1:p.Asp873ThrfsTer17
XM_005254234.3:c.2616del (FAN1) XP_005254291.1:p.Asp873ThrfsTer17
XM_005254234.5:c.2616del (FAN1) XP_005254291.1:p.Asp873ThrfsTer17
XM_005254235.3:c.2616del (FAN1) XP_005254292.1:p.Asp873ThrfsTer17
XM_011521370.1:c.1434del (FAN1) XP_011519672.1:p.Asp479ThrfsTer17
XM_011521370.2:c.1434del (FAN1) XP_011519672.1:p.Asp479ThrfsTer17
XM_011521371.1:c.1431del (FAN1) XP_011519673.1:p.Asp478ThrfsTer17
XM_011521736.1:c.1549-416del (MTMR10) XP_011520038.1:n.1549-416del
XM_011521737.1:c.1549-9303del (MTMR10) XP_011520039.1:n.1549-9303del
XM_011521737.3:c.1549-9303del (MTMR10) XP_011520039.1:n.1549-9303del
XM_017022012.2:c.945del (FAN1) XP_016877501.1:p.Asp316ThrfsTer17
XM_017022013.1:c.945del (FAN1) XP_016877502.1:p.Asp316ThrfsTer17
XM_024449874.1:c.1431del (FAN1) XP_024305642.1:p.Asp478ThrfsTer17
XR_001751149.1:n.4860del (FAN1)
XR_001751151.1:n.4856del (FAN1)