Canonical Allele Identifier: CA2686966080

Gene: FGFR1

Linked Data

• gnomAD v4: 8-38414253-AGTGAAGATCTCCCACAGGAGCACCCCGAAAGACCACCTGCAAATGGGCGGAGAGCCACAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38414257_38414317del , CM000670.2:g.38414257_38414317del	GRCh38
NC_000008.10:g.38271775_38271835del , CM000670.1:g.38271775_38271835del	GRCh37
NC_000008.9:g.38390932_38390992del	NCBI36
NG_007729.1:g.59521_59581del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703405.1:c.2049-25_2084del
ENST00000341462.9:c.2037-25_2072del
ENST00000425967.8:c.2037-25_2072del
ENST00000524528.2:n.2942-25_2977del
ENST00000682398.1:n.1264_1324del
ENST00000683132.1:n.739-25_774del
ENST00000683765.1:c.2229-25_2264del
ENST00000683815.1:c.2037-25_2072del
ENST00000683948.1:n.2737-25_2772del
ENST00000684654.1:c.1770-25_1805del
ENST00000447712.7:c.2049-25_2084del
ENST00000649678.1:c.2037-25_2072del
ENST00000674189.1:c.*1695-25_*1730del
ENST00000674380.1:c.*2016-25_*2051del
ENST00000674474.1:n.3543-25_3578del
ENST00000326324.10:c.1776-25_1811del
ENST00000335922.9:c.2019-25_2054del
ENST00000341462.8:c.*1099-25_*1134del
ENST00000356207.9:c.1782-25_1817del
ENST00000397091.9:c.2043-25_2078del
ENST00000397103.5:c.1782-25_1817del
ENST00000397108.8:c.2043-25_2078del
ENST00000397113.6:c.2043-25_2078del
ENST00000425967.7:c.2142-25_2177del
ENST00000447712.6:c.2049-25_2084del
ENST00000526570.5:n.4328-25_4363del
ENST00000531196.5:c.249-25_284del
ENST00000532791.5:c.2043-25_2078del
ENST00000619564.3:c.*944-25_*979del
NM_001174063.1:c.2043-25_2078del
NM_001174064.1:c.2019-25_2054del
NM_001174065.1:c.2043-25_2078del
NM_001174066.1:c.1782-25_1817del
NM_001174067.1:c.2142-25_2177del
NM_015850.3:c.2043-25_2078del
NM_023105.2:c.1782-25_1817del
NM_023106.2:c.1776-25_1811del
NM_023110.2:c.2049-25_2084del
XM_006716303.2:c.2049-25_2084del
XM_006716304.1:c.2049-25_2084del
XM_006716305.2:c.2049-25_2084del
XM_006716306.2:c.2043-25_2078del
XM_006716307.1:c.2043-25_2078del
XM_006716309.2:c.2025-25_2060del
XM_006716310.2:c.1782-25_1817del
XM_006716311.1:c.1782-25_1817del
XM_006716312.1:c.1782-25_1817del
XM_006716313.2:c.1776-25_1811del
XM_006716314.1:c.1776-25_1811del
XM_011544443.1:c.2148-25_2183del
XM_011544444.1:c.2142-25_2177del
XM_011544445.1:c.2142-25_2177del
XM_011544446.1:c.2148-25_2183del
XM_011544447.1:c.2142-25_2177del
XM_011544448.1:c.1881-25_1916del
XM_011544449.1:c.1875-25_1910del
XM_011544450.1:c.1875-25_1910del
XM_011544451.1:c.1758-25_1793del
NM_001354367.1:c.2043-25_2078del
NM_001354368.1:c.1770-25_1805del
NM_001354369.1:c.2037-25_2072del
NM_001354370.1:c.1776-25_1811del
XM_006716303.3:c.2049-25_2084del
XM_006716310.3:c.1782-25_1817del
XM_006716312.2:c.1782-25_1817del
XM_006716314.2:c.1776-25_1811del
XM_011544443.2:c.2148-25_2183del
XM_011544445.2:c.2142-25_2177del
XM_011544446.2:c.2148-25_2183del
XM_011544447.2:c.2142-25_2177del
XM_011544450.2:c.1875-25_1910del
XM_017013219.1:c.2136-25_2171del
XM_017013220.1:c.2136-25_2171del
XM_017013221.1:c.2049-25_2084del
XM_017013222.2:c.2043-25_2078del
XM_017013224.2:c.2037-25_2072del
XM_017013225.2:c.2037-25_2072del
XM_017013226.1:c.1875-25_1910del
XM_017013227.1:c.1869-25_1904del
XM_017013229.2:c.1077-25_1112del
XM_017013230.1:c.1077-25_1112del
XM_024447097.1:c.2025-25_2060del
XR_001745495.1:n.2322-25_2357del
XR_001745496.1:n.2322-25_2357del
NM_001174063.2:c.2043-25_2078del
NM_001174064.2:c.2019-25_2054del
NM_001174065.2:c.2043-25_2078del
NM_001174066.2:c.1782-25_1817del
NM_001354368.2:c.1770-25_1805del
NM_015850.4:c.2043-25_2078del
NM_023105.3:c.1782-25_1817del
NM_023106.3:c.1776-25_1811del
NM_023110.3:c.2049-25_2084del
NM_001174067.2:c.2142-25_2177del
NM_001354367.2:c.2043-25_2078del
NM_001354369.2:c.2037-25_2072del
NM_001354370.2:c.1776-25_1811del