Canonical Allele Identifier: CA581431052
Gene: FGFR1 HGNC NCBI

Linked Data

dbSNP Id: rs1563428565
gnomAD v2: 8-38271416-TCTGGCA-T
gnomAD v4: 8-38413898-TCTGGCA-T
MyVariant Identifiers: chr8:g.38271417_38271422del (hg19) chr8:g.38413899_38413904del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38413900_38413905del , CM000670.2:g.38413900_38413905del GRCh38
NC_000008.10:g.38271418_38271423del , CM000670.1:g.38271418_38271423del GRCh37
NC_000008.9:g.38390575_38390580del NCBI36
NG_007729.1:g.59931_59936del

Transcript Alleles

HGVS Amino-acid Change
ENST00000703405.1:c.2292+14_2292+19del ENSP00000515291.1:n.2292+14_2292+19del
ENST00000341462.9:c.2280+14_2280+19del ENSP00000340636.7:n.2280+14_2280+19del
ENST00000425967.8:c.2280+14_2280+19del ENSP00000393312.4:n.2280+14_2280+19del
ENST00000524528.2:n.3185+14_3185+19del
ENST00000682398.1:n.1532+14_1532+19del
ENST00000683132.1:n.996_1001del
ENST00000683765.1:c.2472+14_2472+19del ENSP00000507039.1:n.2472+14_2472+19del
ENST00000683815.1:c.2280+14_2280+19del ENSP00000507997.1:n.2280+14_2280+19del
ENST00000683948.1:n.2980+14_2980+19del
ENST00000684654.1:c.2013+14_2013+19del ENSP00000507205.1:n.2013+14_2013+19del
ENST00000447712.7:c.2292+14_2292+19del MANE Select ENSP00000400162.2:n.2292+14_2292+19del
ENST00000649678.1:c.2280+14_2280+19del ENSP00000497266.1:n.2280+14_2280+19del
ENST00000674189.1:c.*1938+14_*1938+19del ENSP00000501345.1:n.*1938+14_*1938+19del
ENST00000674380.1:c.*2259+14_*2259+19del ENSP00000501514.1:n.*2259+14_*2259+19del
ENST00000674474.1:n.3786+14_3786+19del
ENST00000326324.10:c.2019+14_2019+19del ENSP00000327229.6:n.2019+14_2019+19del
ENST00000335922.9:c.2262+14_2262+19del ENSP00000337247.5:n.2262+14_2262+19del
ENST00000341462.8:c.*1342+14_*1342+19del ENSP00000340636.6:n.*1342+14_*1342+19del
ENST00000356207.9:c.2025+14_2025+19del ENSP00000348537.5:n.2025+14_2025+19del
ENST00000397091.9:c.2286+14_2286+19del ENSP00000380280.5:n.2286+14_2286+19del
ENST00000397103.5:c.2025+14_2025+19del ENSP00000380292.1:n.2025+14_2025+19del
ENST00000397108.8:c.2286+14_2286+19del ENSP00000380297.4:n.2286+14_2286+19del
ENST00000397113.6:c.2286+14_2286+19del ENSP00000380302.2:n.2286+14_2286+19del
ENST00000425967.7:c.2385+14_2385+19del ENSP00000393312.3:n.2385+14_2385+19del
ENST00000447712.6:c.2292+14_2292+19del ENSP00000400162.2:n.2292+14_2292+19del
ENST00000526570.5:n.4571+14_4571+19del
ENST00000526688.1:n.59+14_59+19del
ENST00000531196.5:c.503+14_503+19del ENSP00000434800.1:n.503+14_503+19del
ENST00000532791.5:c.2286+14_2286+19del ENSP00000432972.1:n.2286+14_2286+19del
ENST00000619564.3:c.*1187+14_*1187+19del ENSP00000484553.1:n.*1187+14_*1187+19del
NM_001174063.1:c.2286+14_2286+19del NP_001167534.1:n.2286+14_2286+19del
NM_001174064.1:c.2262+14_2262+19del NP_001167535.1:n.2262+14_2262+19del
NM_001174065.1:c.2286+14_2286+19del NP_001167536.1:n.2286+14_2286+19del
NM_001174066.1:c.2025+14_2025+19del NP_001167537.1:n.2025+14_2025+19del
NM_001174067.1:c.2385+14_2385+19del NP_001167538.1:n.2385+14_2385+19del
NM_015850.3:c.2286+14_2286+19del NP_056934.2:n.2286+14_2286+19del
NM_023105.2:c.2025+14_2025+19del NP_075593.1:n.2025+14_2025+19del
NM_023106.2:c.2019+14_2019+19del NP_075594.1:n.2019+14_2019+19del
NM_023110.2:c.2292+14_2292+19del NP_075598.2:n.2292+14_2292+19del
XM_006716303.2:c.2292+14_2292+19del XP_006716366.1:n.2292+14_2292+19del
XM_006716304.1:c.2292+14_2292+19del XP_006716367.1:n.2292+14_2292+19del
XM_006716305.2:c.2292+14_2292+19del XP_006716368.1:n.2292+14_2292+19del
XM_006716306.2:c.2286+14_2286+19del XP_006716369.1:n.2286+14_2286+19del
XM_006716307.1:c.2286+14_2286+19del XP_006716370.1:n.2286+14_2286+19del
XM_006716309.2:c.2268+14_2268+19del XP_006716372.1:n.2268+14_2268+19del
XM_006716310.2:c.2025+14_2025+19del XP_006716373.1:n.2025+14_2025+19del
XM_006716311.1:c.2025+14_2025+19del XP_006716374.1:n.2025+14_2025+19del
XM_006716312.1:c.2025+14_2025+19del XP_006716375.1:n.2025+14_2025+19del
XM_006716313.2:c.2019+14_2019+19del XP_006716376.1:n.2019+14_2019+19del
XM_006716314.1:c.2019+14_2019+19del XP_006716377.1:n.2019+14_2019+19del
XM_011544443.1:c.2391+14_2391+19del XP_011542745.1:n.2391+14_2391+19del
XM_011544444.1:c.2385+14_2385+19del XP_011542746.1:n.2385+14_2385+19del
XM_011544445.1:c.2385+14_2385+19del XP_011542747.1:n.2385+14_2385+19del
XM_011544446.1:c.2391+14_2391+19del XP_011542748.1:n.2391+14_2391+19del
XM_011544447.1:c.2385+14_2385+19del XP_011542749.1:n.2385+14_2385+19del
XM_011544448.1:c.2124+14_2124+19del XP_011542750.1:n.2124+14_2124+19del
XM_011544449.1:c.2118+14_2118+19del XP_011542751.1:n.2118+14_2118+19del
XM_011544450.1:c.2118+14_2118+19del XP_011542752.1:n.2118+14_2118+19del
XM_011544451.1:c.2001+14_2001+19del XP_011542753.1:n.2001+14_2001+19del
NM_001354367.1:c.2286+14_2286+19del NP_001341296.1:n.2286+14_2286+19del
NM_001354368.1:c.2013+14_2013+19del NP_001341297.1:n.2013+14_2013+19del
NM_001354369.1:c.2280+14_2280+19del NP_001341298.1:n.2280+14_2280+19del
NM_001354370.1:c.2019+14_2019+19del NP_001341299.1:n.2019+14_2019+19del
XM_006716303.3:c.2292+14_2292+19del XP_006716366.1:n.2292+14_2292+19del
XM_006716310.3:c.2025+14_2025+19del XP_006716373.1:n.2025+14_2025+19del
XM_006716312.2:c.2025+14_2025+19del XP_006716375.1:n.2025+14_2025+19del
XM_006716314.2:c.2019+14_2019+19del XP_006716377.1:n.2019+14_2019+19del
XM_011544443.2:c.2391+14_2391+19del XP_011542745.1:n.2391+14_2391+19del
XM_011544445.2:c.2385+14_2385+19del XP_011542747.1:n.2385+14_2385+19del
XM_011544446.2:c.2391+14_2391+19del XP_011542748.1:n.2391+14_2391+19del
XM_011544447.2:c.2385+14_2385+19del XP_011542749.1:n.2385+14_2385+19del
XM_011544450.2:c.2118+14_2118+19del XP_011542752.1:n.2118+14_2118+19del
XM_017013219.1:c.2379+14_2379+19del XP_016868708.1:n.2379+14_2379+19del
XM_017013220.1:c.2379+14_2379+19del XP_016868709.1:n.2379+14_2379+19del
XM_017013221.1:c.2292+14_2292+19del XP_016868710.1:n.2292+14_2292+19del
XM_017013222.2:c.2286+14_2286+19del XP_016868711.1:n.2286+14_2286+19del
XM_017013224.2:c.2280+14_2280+19del XP_016868713.1:n.2280+14_2280+19del
XM_017013225.2:c.2280+14_2280+19del XP_016868714.1:n.2280+14_2280+19del
XM_017013226.1:c.2118+14_2118+19del XP_016868715.1:n.2118+14_2118+19del
XM_017013227.1:c.2112+14_2112+19del XP_016868716.1:n.2112+14_2112+19del
XM_017013229.2:c.1320+14_1320+19del XP_016868718.1:n.1320+14_1320+19del
XM_017013230.1:c.1320+14_1320+19del XP_016868719.1:n.1320+14_1320+19del
XM_024447097.1:c.2268+14_2268+19del XP_024302865.1:n.2268+14_2268+19del
XR_001745495.1:n.2565+14_2565+19del
XR_001745496.1:n.2565+14_2565+19del
NM_001174063.2:c.2286+14_2286+19del NP_001167534.1:n.2286+14_2286+19del
NM_001174064.2:c.2262+14_2262+19del NP_001167535.1:n.2262+14_2262+19del
NM_001174065.2:c.2286+14_2286+19del NP_001167536.1:n.2286+14_2286+19del
NM_001174066.2:c.2025+14_2025+19del NP_001167537.1:n.2025+14_2025+19del
NM_001354368.2:c.2013+14_2013+19del NP_001341297.1:n.2013+14_2013+19del
NM_015850.4:c.2286+14_2286+19del NP_056934.2:n.2286+14_2286+19del
NM_023105.3:c.2025+14_2025+19del NP_075593.1:n.2025+14_2025+19del
NM_023106.3:c.2019+14_2019+19del NP_075594.1:n.2019+14_2019+19del
NM_023110.3:c.2292+14_2292+19del MANE Select NP_075598.2:n.2292+14_2292+19del
NM_001174067.2:c.2385+14_2385+19del NP_001167538.1:n.2385+14_2385+19del
NM_001354367.2:c.2286+14_2286+19del NP_001341296.1:n.2286+14_2286+19del
NM_001354369.2:c.2280+14_2280+19del NP_001341298.1:n.2280+14_2280+19del
NM_001354370.2:c.2019+14_2019+19del NP_001341299.1:n.2019+14_2019+19del
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