Canonical Allele Identifier: CA644589501
Gene: FHL1 HGNC NCBI

Linked Data

dbSNP Id: rs1375893296

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136210021_136210025del , CM000685.2:g.136210021_136210025del GRCh38
NC_000023.10:g.135292180_135292184del , CM000685.1:g.135292180_135292184del GRCh37
NC_000023.9:g.135119846_135119850del NCBI36
NG_015895.1:g.67622_67626del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370683.6:c.887_891del MANE Select ENSP00000359717.1:p.Leu296HisfsTer2
ENST00000394155.8:c.*67_*71del MANE Plus Clinical ENSP00000377710.2:n.*67_*71del
ENST00000628919.3:c.839_843del ENSP00000487147.2:p.Leu280HisfsTer2
ENST00000651089.1:c.*67_*71del ENSP00000498684.1:n.*67_*71del
ENST00000651929.2:c.839_843del ENSP00000499016.1:p.Leu280HisfsTer2
ENST00000652457.1:c.*168_*172del ENSP00000498503.1:n.*168_*172del
ENST00000345434.7:c.*67_*71del ENSP00000071281.6:n.*67_*71del
ENST00000370676.7:c.*67_*71del ENSP00000359710.3:n.*67_*71del
ENST00000370683.5:c.887_891del ENSP00000359717.1:p.Leu296HisfsTer2
ENST00000370690.7:c.839_843del ENSP00000359724.3:p.Leu280HisfsTer2
ENST00000394153.6:c.839_843del ENSP00000377709.2:p.Leu280HisfsTer2
ENST00000394155.6:c.*67_*71del ENSP00000377710.2:n.*67_*71del
ENST00000535737.5:c.839_843del ENSP00000444815.1:p.Leu280HisfsTer2
ENST00000539015.5:c.926_930del ENSP00000437673.1:p.Leu309HisfsTer2
ENST00000543669.5:c.839_843del ENSP00000443333.1:p.Leu280HisfsTer2
ENST00000618438.4:c.*67_*71del ENSP00000477609.1:n.*67_*71del
ENST00000628568.1:c.839_843del ENSP00000486782.1:p.Leu280HisfsTer2
ENST00000629039.2:c.839_843del ENSP00000486439.1:p.Leu280HisfsTer2
ENST00000630084.2:c.839_843del ENSP00000485897.1:p.Leu280HisfsTer2
ENST00000630677.1:n.426_430del
NM_001159699.1:c.887_891del NP_001153171.1:p.Leu296HisfsTer2
NM_001159700.1:c.839_843del NP_001153172.1:p.Leu280HisfsTer2
NM_001159701.1:c.926_930del NP_001153173.1:p.Leu309HisfsTer2
NM_001159702.2:c.*67_*71del NP_001153174.1:n.*67_*71del
NM_001159703.1:c.*67_*71del NP_001153175.1:n.*67_*71del
NM_001159704.1:c.839_843del NP_001153176.1:p.Leu280HisfsTer2
NM_001167819.1:c.839_843del NP_001161291.1:p.Leu280HisfsTer2
NM_001449.4:c.839_843del NP_001440.2:p.Leu280HisfsTer2
NR_027621.1:n.1250_1254del
XM_006724743.2:c.*67_*71del XP_006724806.1:n.*67_*71del
XM_006724744.2:c.*67_*71del XP_006724807.1:n.*67_*71del
XM_006724745.2:c.*67_*71del XP_006724808.1:n.*67_*71del
XM_006724746.2:c.*67_*71del XP_006724809.1:n.*67_*71del
XM_006724747.2:c.839_843del XP_006724810.1:p.Leu280HisfsTer2
XM_011531316.1:c.*67_*71del XP_011529618.1:n.*67_*71del
NM_001330659.1:c.*67_*71del NP_001317588.1:n.*67_*71del
XM_006724744.3:c.*67_*71del XP_006724807.1:n.*67_*71del
XM_006724745.4:c.*67_*71del XP_006724808.1:n.*67_*71del
XM_006724746.3:c.*67_*71del XP_006724809.1:n.*67_*71del
XM_006724747.3:c.839_843del XP_006724810.1:p.Leu280HisfsTer2
XM_017029357.2:c.839_843del XP_016884846.1:p.Leu280HisfsTer2
XM_024452353.1:c.*67_*71del XP_024308121.1:n.*67_*71del
XM_024452354.1:c.*67_*71del XP_024308122.1:n.*67_*71del
XM_024452355.1:c.839_843del XP_024308123.1:p.Leu280HisfsTer2
NM_001449.5:c.839_843del NP_001440.2:p.Leu280HisfsTer2
NM_001159699.2:c.887_891del MANE Select NP_001153171.1:p.Leu296HisfsTer2
NM_001159700.2:c.839_843del NP_001153172.1:p.Leu280HisfsTer2
NM_001159701.2:c.926_930del NP_001153173.1:p.Leu309HisfsTer2
NM_001159702.3:c.*67_*71del MANE Plus Clinical NP_001153174.1:n.*67_*71del
NM_001159703.2:c.*67_*71del NP_001153175.1:n.*67_*71del
NM_001330659.2:c.*67_*71del NP_001317588.1:n.*67_*71del
NM_001369326.1:c.*67_*71del NP_001356255.1:n.*67_*71del
NM_001369327.1:c.*67_*71del NP_001356256.1:n.*67_*71del
NM_001369328.1:c.*67_*71del NP_001356257.1:n.*67_*71del
NM_001369329.1:c.839_843del NP_001356258.1:p.Leu280HisfsTer2
NM_001369330.1:c.839_843del NP_001356259.1:p.Leu280HisfsTer2
NM_001369331.1:c.839_843del NP_001356260.1:p.Leu280HisfsTer2
NM_001369327.2:c.*67_*71del NP_001356256.1:n.*67_*71del
NR_027621.2:n.1250_1254del