Canonical Allele Identifier: CA968272030

Gene: FAN1

Linked Data

• ClinVar Variation Id: 2706852
• ClinVar RCV Id: RCV003552192
• dbSNP Id: rs2061959730
• gnomAD v3: 15-30905633-CAT-C
• gnomAD v4: 15-30905633-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30905635_30905636del , CM000677.2:g.30905635_30905636del	GRCh38
NC_000015.9:g.31197838_31197839del , CM000677.1:g.31197838_31197839del	GRCh37
NC_000015.8:g.28985130_28985131del	NCBI36
NG_032946.1:g.6784_6785del
NG_032946.2:g.6784_6785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362065.9:c.972_973del MANE Select	ENSP00000354497.4:p.His324GlnfsTer5
ENST00000561607.6:c.972_973del	ENSP00000454223.1:p.His324GlnfsTer5
ENST00000562892.2:c.-57+1045_-57+1046del	ENSP00000457680.2:n.-57+1045_-57+1046del
ENST00000568145.6:n.110+1045_110+1046del
ENST00000602886.2:n.1149_1150del
ENST00000654013.1:n.1248_1249del
ENST00000654056.1:c.-57+1045_-57+1046del	ENSP00000499726.1:n.-57+1045_-57+1046del
ENST00000655421.1:n.1243_1244del
ENST00000656109.1:n.179+1045_179+1046del
ENST00000656307.1:n.1224_1225del
ENST00000656435.1:c.972_973del	ENSP00000499534.1:p.His324GlnfsTer5
ENST00000657391.1:c.972_973del	ENSP00000499703.1:p.His324GlnfsTer5
ENST00000658773.1:c.972_973del	ENSP00000499742.1:p.His324GlnfsTer5
ENST00000661974.1:c.466_467del
ENST00000662114.1:n.1228_1229del
ENST00000664070.1:c.972_973del	ENSP00000499478.1:p.His324GlnfsTer5
ENST00000664837.1:c.-57+1045_-57+1046del	ENSP00000499780.1:n.-57+1045_-57+1046del
ENST00000665705.1:n.1211_1212del
ENST00000665894.1:n.1232_1233del
ENST00000666143.1:c.-229-90_-229-89del	ENSP00000499576.1:n.-229-90_-229-89del
ENST00000666852.1:n.1224_1225del
ENST00000667837.1:n.965+282_965+283del
ENST00000670074.1:c.690+282_690+283del	ENSP00000499252.1:n.690+282_690+283del
ENST00000670849.1:c.972_973del	ENSP00000499638.1:p.His324GlnfsTer5
ENST00000362065.8:c.972_973del	ENSP00000354497.4:p.His324GlnfsTer5
ENST00000561594.5:c.972_973del	ENSP00000455983.1:p.His324GlnfsTer5
ENST00000561607.5:c.972_973del	ENSP00000454223.1:p.His324GlnfsTer5
ENST00000562892.1:c.52+1045_52+1046del	ENSP00000457680.1:n.52+1045_52+1046del
ENST00000565280.5:c.972_973del	ENSP00000455573.1:p.His324GlnfsTer5
ENST00000565466.5:c.972_973del	ENSP00000454544.1:p.His324GlnfsTer5
NM_001146094.1:c.972_973del	NP_001139566.1:p.His324GlnfsTer5
NM_001146095.1:c.972_973del	NP_001139567.1:p.His324GlnfsTer5
NM_001146096.1:c.972_973del	NP_001139568.1:p.His324GlnfsTer5
NM_014967.4:c.972_973del	NP_055782.3:p.His324GlnfsTer5
XM_005254232.3:c.972_973del	XP_005254289.1:p.His324GlnfsTer5
XM_005254234.3:c.972_973del	XP_005254291.1:p.His324GlnfsTer5
XM_005254235.3:c.972_973del	XP_005254292.1:p.His324GlnfsTer5
XM_005254236.2:c.972_973del	XP_005254293.1:p.His324GlnfsTer5
XM_011521370.1:c.52+1045_52+1046del	XP_011519672.1:n.52+1045_52+1046del
XM_011521371.1:c.-348_-347del	XP_011519673.1:n.-348_-347del
XM_011521372.1:c.972_973del	XP_011519674.1:p.His324GlnfsTer5
XM_005254232.4:c.972_973del	XP_005254289.1:p.His324GlnfsTer5
XM_005254234.5:c.972_973del	XP_005254291.1:p.His324GlnfsTer5
XM_011521370.2:c.52+1045_52+1046del	XP_011519672.1:n.52+1045_52+1046del
XM_011521372.2:c.972_973del	XP_011519674.1:p.His324GlnfsTer5
XM_017022012.2:c.-498_-497del	XP_016877501.1:n.-498_-497del
XM_017022013.1:c.-498_-497del	XP_016877502.1:n.-498_-497del
XM_024449874.1:c.-348_-347del	XP_024305642.1:n.-348_-347del
XR_001751149.1:n.1271_1272del
XR_001751151.1:n.1267_1268del
NM_014967.5:c.972_973del MANE Select	NP_055782.3:p.His324GlnfsTer5
NM_001146094.2:c.972_973del	NP_001139566.1:p.His324GlnfsTer5
NM_001146096.2:c.972_973del	NP_001139568.1:p.His324GlnfsTer5