Canonical Allele Identifier: CA16616433
Gene: FHL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 410317
ClinVar RCV Id: RCV000477392
dbSNP Id: rs1060502840
MyVariant Identifiers: chrX:g.135288651del (hg19) chrX:g.136206492del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136206492del , CM000685.2:g.136206492del GRCh38
NC_000023.10:g.135288651del , CM000685.1:g.135288651del GRCh37
NC_000023.9:g.135116317del NCBI36
NG_015895.1:g.64093del

Transcript Alleles

HGVS Amino-acid change
ENST00000370683.6:c.108del MANE Select ENSP00000359717.1:p.Gln37LysfsTer9
ENST00000394155.8:c.60del MANE Plus Clinical ENSP00000377710.2:p.Gln21LysfsTer9
ENST00000628919.3:c.60del ENSP00000487147.2:p.Gln21LysfsTer9
ENST00000651089.1:c.60del ENSP00000498684.1:p.Gln21LysfsTer9
ENST00000651256.1:c.60del ENSP00000499033.1:p.Gln21LysfsTer9
ENST00000651929.2:c.60del ENSP00000499016.1:p.Gln21LysfsTer9
ENST00000652457.1:c.60del ENSP00000498503.1:p.Gln21LysfsTer9
ENST00000652745.1:c.60del ENSP00000498581.1:p.Gln21LysfsTer9
ENST00000345434.7:c.60del ENSP00000071281.6:p.Gln21LysfsTer9
ENST00000370674.3:c.60del ENSP00000359708.1:p.Gln21LysfsTer9
ENST00000370676.7:c.108del ENSP00000359710.3:p.Gln37LysfsTer9
ENST00000370683.5:c.108del ENSP00000359717.1:p.Gln37LysfsTer9
ENST00000370690.7:c.60del ENSP00000359724.3:p.Gln21LysfsTer9
ENST00000394153.6:c.60del ENSP00000377709.2:p.Gln21LysfsTer9
ENST00000394155.6:c.60del ENSP00000377710.2:p.Gln21LysfsTer9
ENST00000420362.5:c.60del ENSP00000391779.1:p.Gln21LysfsTer9
ENST00000434885.5:c.60del ENSP00000413798.1:p.Gln21LysfsTer9
ENST00000449474.5:c.60del ENSP00000414604.1:p.Gln21LysfsTer9
ENST00000452016.5:c.60del ENSP00000408038.1:p.Gln21LysfsTer9
ENST00000456445.5:c.60del ENSP00000412642.1:p.Gln21LysfsTer9
ENST00000458357.5:c.60del ENSP00000389920.1:p.Gln21LysfsTer9
ENST00000477080.1:n.117del
ENST00000477204.5:n.158del
ENST00000535737.5:c.60del ENSP00000444815.1:p.Gln21LysfsTer9
ENST00000539015.5:c.147del ENSP00000437673.1:p.Gln50LysfsTer9
ENST00000543669.5:c.60del ENSP00000443333.1:p.Gln21LysfsTer9
ENST00000618438.4:c.60del ENSP00000477609.1:p.Gln21LysfsTer9
ENST00000627383.2:c.60del ENSP00000487318.1:p.Gln21LysfsTer9
ENST00000627578.2:c.60del ENSP00000486436.1:p.Gln21LysfsTer9
ENST00000627812.2:c.60del ENSP00000486134.1:p.Gln21LysfsTer9
ENST00000628032.2:c.60del ENSP00000487030.1:p.Gln21LysfsTer9
ENST00000628443.2:c.60del ENSP00000486631.1:p.Gln21LysfsTer9
ENST00000628568.1:c.60del ENSP00000486782.1:p.Gln21LysfsTer9
ENST00000628919.2:c.60del ENSP00000487147.1:p.Gln21LysfsTer9
ENST00000629039.2:c.60del ENSP00000486439.1:p.Gln21LysfsTer9
ENST00000630084.2:c.60del ENSP00000485897.1:p.Gln21LysfsTer9
ENST00000630278.2:c.60del ENSP00000487377.1:p.Gln21LysfsTer9
ENST00000630684.2:n.110del
NM_001159699.1:c.108del NP_001153171.1:p.Gln37LysfsTer9
NM_001159700.1:c.60del NP_001153172.1:p.Gln21LysfsTer9
NM_001159701.1:c.147del NP_001153173.1:p.Gln50LysfsTer9
NM_001159702.2:c.60del NP_001153174.1:p.Gln21LysfsTer9
NM_001159703.1:c.60del NP_001153175.1:p.Gln21LysfsTer9
NM_001159704.1:c.60del NP_001153176.1:p.Gln21LysfsTer9
NM_001167819.1:c.60del NP_001161291.1:p.Gln21LysfsTer9
NM_001449.4:c.60del NP_001440.2:p.Gln21LysfsTer9
NR_027621.1:n.471del
XM_006724743.2:c.108del XP_006724806.1:p.Gln37LysfsTer9
XM_006724744.2:c.60del XP_006724807.1:p.Gln21LysfsTer9
XM_006724745.2:c.60del XP_006724808.1:p.Gln21LysfsTer9
XM_006724746.2:c.60del XP_006724809.1:p.Gln21LysfsTer9
XM_006724747.2:c.60del XP_006724810.1:p.Gln21LysfsTer9
XM_011531316.1:c.108del XP_011529618.1:p.Gln37LysfsTer9
NM_001330659.1:c.108del NP_001317588.1:p.Gln37LysfsTer9
XM_006724744.3:c.60del XP_006724807.1:p.Gln21LysfsTer9
XM_006724745.4:c.60del XP_006724808.1:p.Gln21LysfsTer9
XM_006724746.3:c.60del XP_006724809.1:p.Gln21LysfsTer9
XM_006724747.3:c.60del XP_006724810.1:p.Gln21LysfsTer9
XM_017029357.2:c.60del XP_016884846.1:p.Gln21LysfsTer9
XM_024452353.1:c.60del XP_024308121.1:p.Gln21LysfsTer9
XM_024452354.1:c.60del XP_024308122.1:p.Gln21LysfsTer9
XM_024452355.1:c.60del XP_024308123.1:p.Gln21LysfsTer9
NM_001449.5:c.60del NP_001440.2:p.Gln21LysfsTer9
NM_001159699.2:c.108del MANE Select NP_001153171.1:p.Gln37LysfsTer9
NM_001159700.2:c.60del NP_001153172.1:p.Gln21LysfsTer9
NM_001159701.2:c.147del NP_001153173.1:p.Gln50LysfsTer9
NM_001159702.3:c.60del MANE Plus Clinical NP_001153174.1:p.Gln21LysfsTer9
NM_001159703.2:c.60del NP_001153175.1:p.Gln21LysfsTer9
NM_001330659.2:c.108del NP_001317588.1:p.Gln37LysfsTer9
NM_001369326.1:c.60del NP_001356255.1:p.Gln21LysfsTer9
NM_001369327.1:c.60del NP_001356256.1:p.Gln21LysfsTer9
NM_001369328.1:c.60del NP_001356257.1:p.Gln21LysfsTer9
NM_001369329.1:c.60del NP_001356258.1:p.Gln21LysfsTer9
NM_001369330.1:c.60del NP_001356259.1:p.Gln21LysfsTer9
NM_001369331.1:c.60del NP_001356260.1:p.Gln21LysfsTer9
NM_001369327.2:c.60del NP_001356256.1:p.Gln21LysfsTer9
NR_027621.2:n.471del
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