Canonical Allele Identifier: CA581138308

Gene: FGFR1

Linked Data

• dbSNP Id: rs1400281207
• gnomAD v2: 8-38272105-C-CGCCGTATCATT
• MyVariant Identifiers: chr8:g.38272105_38272106insGCCGTATCATT (hg19) ; chr8:g.38414587_38414588insGCCGTATCATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38414587_38414588insGCCGTATCATT , CM000670.2:g.38414587_38414588insGCCGTATCATT	GRCh38
NC_000008.10:g.38272105_38272106insGCCGTATCATT , CM000670.1:g.38272105_38272106insGCCGTATCATT	GRCh37
NC_000008.9:g.38391262_38391263insGCCGTATCATT	NCBI36
NG_007729.1:g.59247_59248insAATGATACGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703405.1:c.2019_2020insAATGATACGGC	ENSP00000515291.1:p.Asp674AsnfsTer?
ENST00000341462.9:c.2007_2008insAATGATACGGC	ENSP00000340636.7:p.Asp670AsnfsTer?
ENST00000425967.8:c.2007_2008insAATGATACGGC	ENSP00000393312.4:p.Asp670AsnfsTer?
ENST00000524528.2:n.2912_2913insAATGATACGGC
ENST00000682398.1:n.990_991insAATGATACGGC
ENST00000683132.1:n.709_710insAATGATACGGC
ENST00000683765.1:c.2199_2200insAATGATACGGC	ENSP00000507039.1:p.Asp734AsnfsTer?
ENST00000683815.1:c.2007_2008insAATGATACGGC	ENSP00000507997.1:p.Asp670AsnfsTer?
ENST00000683948.1:n.2707_2708insAATGATACGGC
ENST00000684654.1:c.1740_1741insAATGATACGGC	ENSP00000507205.1:p.Asp581AsnfsTer?
ENST00000447712.7:c.2019_2020insAATGATACGGC MANE Select	ENSP00000400162.2:p.Asp674AsnfsTer?
ENST00000649678.1:c.2007_2008insAATGATACGGC	ENSP00000497266.1:p.Asp670AsnfsTer?
ENST00000674189.1:c.*1665_*1666insAATGATACGGC	ENSP00000501345.1:n.*1665_*1666insAATGATACGGC
ENST00000674380.1:c.*1986_*1987insAATGATACGGC	ENSP00000501514.1:n.*1986_*1987insAATGATACGGC
ENST00000674474.1:n.3513_3514insAATGATACGGC
ENST00000326324.10:c.1746_1747insAATGATACGGC	ENSP00000327229.6:p.Asp583AsnfsTer?
ENST00000335922.9:c.1989_1990insAATGATACGGC	ENSP00000337247.5:p.Asp664AsnfsTer?
ENST00000341462.8:c.*1069_*1070insAATGATACGGC	ENSP00000340636.6:n.*1069_*1070insAATGATACGGC
ENST00000356207.9:c.1752_1753insAATGATACGGC	ENSP00000348537.5:p.Asp585AsnfsTer?
ENST00000397091.9:c.2013_2014insAATGATACGGC	ENSP00000380280.5:p.Asp672AsnfsTer?
ENST00000397103.5:c.1752_1753insAATGATACGGC	ENSP00000380292.1:p.Asp585AsnfsTer?
ENST00000397108.8:c.2013_2014insAATGATACGGC	ENSP00000380297.4:p.Asp672AsnfsTer?
ENST00000397113.6:c.2013_2014insAATGATACGGC	ENSP00000380302.2:p.Asp672AsnfsTer?
ENST00000425967.7:c.2112_2113insAATGATACGGC	ENSP00000393312.3:p.Asp705AsnfsTer?
ENST00000447712.6:c.2019_2020insAATGATACGGC	ENSP00000400162.2:p.Asp674AsnfsTer?
ENST00000526570.5:n.4298_4299insAATGATACGGC
ENST00000531196.5:c.219_220insAATGATACGGC	ENSP00000434800.1:p.Asp74AsnfsTer?
ENST00000532791.5:c.2013_2014insAATGATACGGC	ENSP00000432972.1:p.Asp672AsnfsTer?
ENST00000619564.3:c.*914_*915insAATGATACGGC	ENSP00000484553.1:n.*914_*915insAATGATACGGC
NM_001174063.1:c.2013_2014insAATGATACGGC	NP_001167534.1:p.Asp672AsnfsTer?
NM_001174064.1:c.1989_1990insAATGATACGGC	NP_001167535.1:p.Asp664AsnfsTer?
NM_001174065.1:c.2013_2014insAATGATACGGC	NP_001167536.1:p.Asp672AsnfsTer?
NM_001174066.1:c.1752_1753insAATGATACGGC	NP_001167537.1:p.Asp585AsnfsTer?
NM_001174067.1:c.2112_2113insAATGATACGGC	NP_001167538.1:p.Asp705AsnfsTer?
NM_015850.3:c.2013_2014insAATGATACGGC	NP_056934.2:p.Asp672AsnfsTer?
NM_023105.2:c.1752_1753insAATGATACGGC	NP_075593.1:p.Asp585AsnfsTer?
NM_023106.2:c.1746_1747insAATGATACGGC	NP_075594.1:p.Asp583AsnfsTer?
NM_023110.2:c.2019_2020insAATGATACGGC	NP_075598.2:p.Asp674AsnfsTer?
XM_006716303.2:c.2019_2020insAATGATACGGC	XP_006716366.1:p.Asp674AsnfsTer?
XM_006716304.1:c.2019_2020insAATGATACGGC	XP_006716367.1:p.Asp674AsnfsTer?
XM_006716305.2:c.2019_2020insAATGATACGGC	XP_006716368.1:p.Asp674AsnfsTer?
XM_006716306.2:c.2013_2014insAATGATACGGC	XP_006716369.1:p.Asp672AsnfsTer?
XM_006716307.1:c.2013_2014insAATGATACGGC	XP_006716370.1:p.Asp672AsnfsTer?
XM_006716309.2:c.1995_1996insAATGATACGGC	XP_006716372.1:p.Asp666AsnfsTer?
XM_006716310.2:c.1752_1753insAATGATACGGC	XP_006716373.1:p.Asp585AsnfsTer?
XM_006716311.1:c.1752_1753insAATGATACGGC	XP_006716374.1:p.Asp585AsnfsTer?
XM_006716312.1:c.1752_1753insAATGATACGGC	XP_006716375.1:p.Asp585AsnfsTer?
XM_006716313.2:c.1746_1747insAATGATACGGC	XP_006716376.1:p.Asp583AsnfsTer?
XM_006716314.1:c.1746_1747insAATGATACGGC	XP_006716377.1:p.Asp583AsnfsTer?
XM_011544443.1:c.2118_2119insAATGATACGGC	XP_011542745.1:p.Asp707AsnfsTer?
XM_011544444.1:c.2112_2113insAATGATACGGC	XP_011542746.1:p.Asp705AsnfsTer?
XM_011544445.1:c.2112_2113insAATGATACGGC	XP_011542747.1:p.Asp705AsnfsTer?
XM_011544446.1:c.2118_2119insAATGATACGGC	XP_011542748.1:p.Asp707AsnfsTer?
XM_011544447.1:c.2112_2113insAATGATACGGC	XP_011542749.1:p.Asp705AsnfsTer?
XM_011544448.1:c.1851_1852insAATGATACGGC	XP_011542750.1:p.Asp618AsnfsTer?
XM_011544449.1:c.1845_1846insAATGATACGGC	XP_011542751.1:p.Asp616AsnfsTer?
XM_011544450.1:c.1845_1846insAATGATACGGC	XP_011542752.1:p.Asp616AsnfsTer?
XM_011544451.1:c.1728_1729insAATGATACGGC	XP_011542753.1:p.Asp577AsnfsTer?
NM_001354367.1:c.2013_2014insAATGATACGGC	NP_001341296.1:p.Asp672AsnfsTer?
NM_001354368.1:c.1740_1741insAATGATACGGC	NP_001341297.1:p.Asp581AsnfsTer?
NM_001354369.1:c.2007_2008insAATGATACGGC	NP_001341298.1:p.Asp670AsnfsTer?
NM_001354370.1:c.1746_1747insAATGATACGGC	NP_001341299.1:p.Asp583AsnfsTer?
XM_006716303.3:c.2019_2020insAATGATACGGC	XP_006716366.1:p.Asp674AsnfsTer?
XM_006716310.3:c.1752_1753insAATGATACGGC	XP_006716373.1:p.Asp585AsnfsTer?
XM_006716312.2:c.1752_1753insAATGATACGGC	XP_006716375.1:p.Asp585AsnfsTer?
XM_006716314.2:c.1746_1747insAATGATACGGC	XP_006716377.1:p.Asp583AsnfsTer?
XM_011544443.2:c.2118_2119insAATGATACGGC	XP_011542745.1:p.Asp707AsnfsTer?
XM_011544445.2:c.2112_2113insAATGATACGGC	XP_011542747.1:p.Asp705AsnfsTer?
XM_011544446.2:c.2118_2119insAATGATACGGC	XP_011542748.1:p.Asp707AsnfsTer?
XM_011544447.2:c.2112_2113insAATGATACGGC	XP_011542749.1:p.Asp705AsnfsTer?
XM_011544450.2:c.1845_1846insAATGATACGGC	XP_011542752.1:p.Asp616AsnfsTer?
XM_017013219.1:c.2106_2107insAATGATACGGC	XP_016868708.1:p.Asp703AsnfsTer?
XM_017013220.1:c.2106_2107insAATGATACGGC	XP_016868709.1:p.Asp703AsnfsTer?
XM_017013221.1:c.2019_2020insAATGATACGGC	XP_016868710.1:p.Asp674AsnfsTer?
XM_017013222.2:c.2013_2014insAATGATACGGC	XP_016868711.1:p.Asp672AsnfsTer?
XM_017013224.2:c.2007_2008insAATGATACGGC	XP_016868713.1:p.Asp670AsnfsTer?
XM_017013225.2:c.2007_2008insAATGATACGGC	XP_016868714.1:p.Asp670AsnfsTer?
XM_017013226.1:c.1845_1846insAATGATACGGC	XP_016868715.1:p.Asp616AsnfsTer?
XM_017013227.1:c.1839_1840insAATGATACGGC	XP_016868716.1:p.Asp614AsnfsTer?
XM_017013229.2:c.1047_1048insAATGATACGGC	XP_016868718.1:p.Asp350AsnfsTer?
XM_017013230.1:c.1047_1048insAATGATACGGC	XP_016868719.1:p.Asp350AsnfsTer?
XM_024447097.1:c.1995_1996insAATGATACGGC	XP_024302865.1:p.Asp666AsnfsTer?
XR_001745495.1:n.2292_2293insAATGATACGGC
XR_001745496.1:n.2292_2293insAATGATACGGC
NM_001174063.2:c.2013_2014insAATGATACGGC	NP_001167534.1:p.Asp672AsnfsTer?
NM_001174064.2:c.1989_1990insAATGATACGGC	NP_001167535.1:p.Asp664AsnfsTer?
NM_001174065.2:c.2013_2014insAATGATACGGC	NP_001167536.1:p.Asp672AsnfsTer?
NM_001174066.2:c.1752_1753insAATGATACGGC	NP_001167537.1:p.Asp585AsnfsTer?
NM_001354368.2:c.1740_1741insAATGATACGGC	NP_001341297.1:p.Asp581AsnfsTer?
NM_015850.4:c.2013_2014insAATGATACGGC	NP_056934.2:p.Asp672AsnfsTer?
NM_023105.3:c.1752_1753insAATGATACGGC	NP_075593.1:p.Asp585AsnfsTer?
NM_023106.3:c.1746_1747insAATGATACGGC	NP_075594.1:p.Asp583AsnfsTer?
NM_023110.3:c.2019_2020insAATGATACGGC MANE Select	NP_075598.2:p.Asp674AsnfsTer?
NM_001174067.2:c.2112_2113insAATGATACGGC	NP_001167538.1:p.Asp705AsnfsTer?
NM_001354367.2:c.2013_2014insAATGATACGGC	NP_001341296.1:p.Asp672AsnfsTer?
NM_001354369.2:c.2007_2008insAATGATACGGC	NP_001341298.1:p.Asp670AsnfsTer?
NM_001354370.2:c.1746_1747insAATGATACGGC	NP_001341299.1:p.Asp583AsnfsTer?