Canonical Allele Identifier: CA1112898566

Gene: FGFR1

Linked Data

• gnomAD v3: 8-38414586-TCAAATAATGCCTC-T
• gnomAD v4: 8-38414586-TCAAATAATGCCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38414587_38414599del , CM000670.2:g.38414587_38414599del	GRCh38
NC_000008.10:g.38272105_38272117del , CM000670.1:g.38272105_38272117del	GRCh37
NC_000008.9:g.38391262_38391274del	NCBI36
NG_007729.1:g.59236_59248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703405.1:c.2008_2020del	ENSP00000515291.1:p.Glu670ThrfsTer?
ENST00000341462.9:c.1996_2008del	ENSP00000340636.7:p.Glu666ThrfsTer?
ENST00000425967.8:c.1996_2008del	ENSP00000393312.4:p.Glu666ThrfsTer?
ENST00000524528.2:n.2901_2913del
ENST00000682398.1:n.979_991del
ENST00000683132.1:n.698_710del
ENST00000683765.1:c.2188_2200del	ENSP00000507039.1:p.Glu730ThrfsTer?
ENST00000683815.1:c.1996_2008del	ENSP00000507997.1:p.Glu666ThrfsTer?
ENST00000683948.1:n.2696_2708del
ENST00000684654.1:c.1729_1741del	ENSP00000507205.1:p.Glu577ThrfsTer?
ENST00000447712.7:c.2008_2020del MANE Select	ENSP00000400162.2:p.Glu670ThrfsTer?
ENST00000649678.1:c.1996_2008del	ENSP00000497266.1:p.Glu666ThrfsTer?
ENST00000674189.1:c.*1654_*1666del	ENSP00000501345.1:n.*1654_*1666del
ENST00000674380.1:c.*1975_*1987del	ENSP00000501514.1:n.*1975_*1987del
ENST00000674474.1:n.3502_3514del
ENST00000326324.10:c.1735_1747del	ENSP00000327229.6:p.Glu579ThrfsTer?
ENST00000335922.9:c.1978_1990del	ENSP00000337247.5:p.Glu660ThrfsTer?
ENST00000341462.8:c.*1058_*1070del	ENSP00000340636.6:n.*1058_*1070del
ENST00000356207.9:c.1741_1753del	ENSP00000348537.5:p.Glu581ThrfsTer?
ENST00000397091.9:c.2002_2014del	ENSP00000380280.5:p.Glu668ThrfsTer?
ENST00000397103.5:c.1741_1753del	ENSP00000380292.1:p.Glu581ThrfsTer?
ENST00000397108.8:c.2002_2014del	ENSP00000380297.4:p.Glu668ThrfsTer?
ENST00000397113.6:c.2002_2014del	ENSP00000380302.2:p.Glu668ThrfsTer?
ENST00000425967.7:c.2101_2113del	ENSP00000393312.3:p.Glu701ThrfsTer?
ENST00000447712.6:c.2008_2020del	ENSP00000400162.2:p.Glu670ThrfsTer?
ENST00000526570.5:n.4287_4299del
ENST00000531196.5:c.208_220del	ENSP00000434800.1:p.Glu70ThrfsTer?
ENST00000532791.5:c.2002_2014del	ENSP00000432972.1:p.Glu668ThrfsTer?
ENST00000619564.3:c.*903_*915del	ENSP00000484553.1:n.*903_*915del
NM_001174063.1:c.2002_2014del	NP_001167534.1:p.Glu668ThrfsTer?
NM_001174064.1:c.1978_1990del	NP_001167535.1:p.Glu660ThrfsTer?
NM_001174065.1:c.2002_2014del	NP_001167536.1:p.Glu668ThrfsTer?
NM_001174066.1:c.1741_1753del	NP_001167537.1:p.Glu581ThrfsTer?
NM_001174067.1:c.2101_2113del	NP_001167538.1:p.Glu701ThrfsTer?
NM_015850.3:c.2002_2014del	NP_056934.2:p.Glu668ThrfsTer?
NM_023105.2:c.1741_1753del	NP_075593.1:p.Glu581ThrfsTer?
NM_023106.2:c.1735_1747del	NP_075594.1:p.Glu579ThrfsTer?
NM_023110.2:c.2008_2020del	NP_075598.2:p.Glu670ThrfsTer?
XM_006716303.2:c.2008_2020del	XP_006716366.1:p.Glu670ThrfsTer?
XM_006716304.1:c.2008_2020del	XP_006716367.1:p.Glu670ThrfsTer?
XM_006716305.2:c.2008_2020del	XP_006716368.1:p.Glu670ThrfsTer?
XM_006716306.2:c.2002_2014del	XP_006716369.1:p.Glu668ThrfsTer?
XM_006716307.1:c.2002_2014del	XP_006716370.1:p.Glu668ThrfsTer?
XM_006716309.2:c.1984_1996del	XP_006716372.1:p.Glu662ThrfsTer?
XM_006716310.2:c.1741_1753del	XP_006716373.1:p.Glu581ThrfsTer?
XM_006716311.1:c.1741_1753del	XP_006716374.1:p.Glu581ThrfsTer?
XM_006716312.1:c.1741_1753del	XP_006716375.1:p.Glu581ThrfsTer?
XM_006716313.2:c.1735_1747del	XP_006716376.1:p.Glu579ThrfsTer?
XM_006716314.1:c.1735_1747del	XP_006716377.1:p.Glu579ThrfsTer?
XM_011544443.1:c.2107_2119del	XP_011542745.1:p.Glu703ThrfsTer?
XM_011544444.1:c.2101_2113del	XP_011542746.1:p.Glu701ThrfsTer?
XM_011544445.1:c.2101_2113del	XP_011542747.1:p.Glu701ThrfsTer?
XM_011544446.1:c.2107_2119del	XP_011542748.1:p.Glu703ThrfsTer?
XM_011544447.1:c.2101_2113del	XP_011542749.1:p.Glu701ThrfsTer?
XM_011544448.1:c.1840_1852del	XP_011542750.1:p.Glu614ThrfsTer?
XM_011544449.1:c.1834_1846del	XP_011542751.1:p.Glu612ThrfsTer?
XM_011544450.1:c.1834_1846del	XP_011542752.1:p.Glu612ThrfsTer?
XM_011544451.1:c.1717_1729del	XP_011542753.1:p.Glu573ThrfsTer?
NM_001354367.1:c.2002_2014del	NP_001341296.1:p.Glu668ThrfsTer?
NM_001354368.1:c.1729_1741del	NP_001341297.1:p.Glu577ThrfsTer?
NM_001354369.1:c.1996_2008del	NP_001341298.1:p.Glu666ThrfsTer?
NM_001354370.1:c.1735_1747del	NP_001341299.1:p.Glu579ThrfsTer?
XM_006716303.3:c.2008_2020del	XP_006716366.1:p.Glu670ThrfsTer?
XM_006716310.3:c.1741_1753del	XP_006716373.1:p.Glu581ThrfsTer?
XM_006716312.2:c.1741_1753del	XP_006716375.1:p.Glu581ThrfsTer?
XM_006716314.2:c.1735_1747del	XP_006716377.1:p.Glu579ThrfsTer?
XM_011544443.2:c.2107_2119del	XP_011542745.1:p.Glu703ThrfsTer?
XM_011544445.2:c.2101_2113del	XP_011542747.1:p.Glu701ThrfsTer?
XM_011544446.2:c.2107_2119del	XP_011542748.1:p.Glu703ThrfsTer?
XM_011544447.2:c.2101_2113del	XP_011542749.1:p.Glu701ThrfsTer?
XM_011544450.2:c.1834_1846del	XP_011542752.1:p.Glu612ThrfsTer?
XM_017013219.1:c.2095_2107del	XP_016868708.1:p.Glu699ThrfsTer?
XM_017013220.1:c.2095_2107del	XP_016868709.1:p.Glu699ThrfsTer?
XM_017013221.1:c.2008_2020del	XP_016868710.1:p.Glu670ThrfsTer?
XM_017013222.2:c.2002_2014del	XP_016868711.1:p.Glu668ThrfsTer?
XM_017013224.2:c.1996_2008del	XP_016868713.1:p.Glu666ThrfsTer?
XM_017013225.2:c.1996_2008del	XP_016868714.1:p.Glu666ThrfsTer?
XM_017013226.1:c.1834_1846del	XP_016868715.1:p.Glu612ThrfsTer?
XM_017013227.1:c.1828_1840del	XP_016868716.1:p.Glu610ThrfsTer?
XM_017013229.2:c.1036_1048del	XP_016868718.1:p.Glu346ThrfsTer?
XM_017013230.1:c.1036_1048del	XP_016868719.1:p.Glu346ThrfsTer?
XM_024447097.1:c.1984_1996del	XP_024302865.1:p.Glu662ThrfsTer?
XR_001745495.1:n.2281_2293del
XR_001745496.1:n.2281_2293del
NM_001174063.2:c.2002_2014del	NP_001167534.1:p.Glu668ThrfsTer?
NM_001174064.2:c.1978_1990del	NP_001167535.1:p.Glu660ThrfsTer?
NM_001174065.2:c.2002_2014del	NP_001167536.1:p.Glu668ThrfsTer?
NM_001174066.2:c.1741_1753del	NP_001167537.1:p.Glu581ThrfsTer?
NM_001354368.2:c.1729_1741del	NP_001341297.1:p.Glu577ThrfsTer?
NM_015850.4:c.2002_2014del	NP_056934.2:p.Glu668ThrfsTer?
NM_023105.3:c.1741_1753del	NP_075593.1:p.Glu581ThrfsTer?
NM_023106.3:c.1735_1747del	NP_075594.1:p.Glu579ThrfsTer?
NM_023110.3:c.2008_2020del MANE Select	NP_075598.2:p.Glu670ThrfsTer?
NM_001174067.2:c.2101_2113del	NP_001167538.1:p.Glu701ThrfsTer?
NM_001354367.2:c.2002_2014del	NP_001341296.1:p.Glu668ThrfsTer?
NM_001354369.2:c.1996_2008del	NP_001341298.1:p.Glu666ThrfsTer?
NM_001354370.2:c.1735_1747del	NP_001341299.1:p.Glu579ThrfsTer?