Canonical Allele Identifier: CA871867626

Gene: FHL1

Linked Data

• dbSNP Id: rs1418868559
• gnomAD v3: X-136210300-CAT-C
• gnomAD v4: X-136210300-CAT-C
• MyVariant Identifiers: chrX:g.135292460_135292461del (hg19) ; chrX:g.136210301_136210302del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136210302_136210303del , CM000685.2:g.136210302_136210303del	GRCh38
NC_000023.10:g.135292461_135292462del , CM000685.1:g.135292461_135292462del	GRCh37
NC_000023.9:g.135120127_135120128del	NCBI36
NG_015895.1:g.67903_67904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370683.6:c.*277_*278del MANE Select	ENSP00000359717.1:n.*277_*278del
ENST00000394155.8:c.*348_*349del MANE Plus Clinical	ENSP00000377710.2:n.*348_*349del
ENST00000651089.1:c.*348_*349del	ENSP00000498684.1:n.*348_*349del
ENST00000651929.2:c.*277_*278del	ENSP00000499016.1:n.*277_*278del
ENST00000652457.1:c.*449_*450del	ENSP00000498503.1:n.*449_*450del
ENST00000345434.7:c.*348_*349del	ENSP00000071281.6:n.*348_*349del
ENST00000370683.5:c.*277_*278del	ENSP00000359717.1:n.*277_*278del
ENST00000370690.7:c.*277_*278del	ENSP00000359724.3:n.*277_*278del
ENST00000394153.6:c.*277_*278del	ENSP00000377709.2:n.*277_*278del
ENST00000394155.6:c.*348_*349del	ENSP00000377710.2:n.*348_*349del
ENST00000535737.5:c.*277_*278del	ENSP00000444815.1:n.*277_*278del
ENST00000539015.5:c.*277_*278del	ENSP00000437673.1:n.*277_*278del
ENST00000543669.5:c.*277_*278del	ENSP00000443333.1:n.*277_*278del
ENST00000618438.4:c.*348_*349del	ENSP00000477609.1:n.*348_*349del
ENST00000628568.1:c.*277_*278del	ENSP00000486782.1:n.*277_*278del
ENST00000630677.1:n.707_708del
NM_001159699.1:c.*277_*278del	NP_001153171.1:n.*277_*278del
NM_001159700.1:c.*277_*278del	NP_001153172.1:n.*277_*278del
NM_001159701.1:c.*277_*278del	NP_001153173.1:n.*277_*278del
NM_001159702.2:c.*348_*349del	NP_001153174.1:n.*348_*349del
NM_001159703.1:c.*348_*349del	NP_001153175.1:n.*348_*349del
NM_001159704.1:c.*277_*278del	NP_001153176.1:n.*277_*278del
NM_001167819.1:c.*277_*278del	NP_001161291.1:n.*277_*278del
NM_001449.4:c.*277_*278del	NP_001440.2:n.*277_*278del
NR_027621.1:n.1531_1532del
XM_006724743.2:c.*348_*349del	XP_006724806.1:n.*348_*349del
XM_006724744.2:c.*348_*349del	XP_006724807.1:n.*348_*349del
XM_006724745.2:c.*348_*349del	XP_006724808.1:n.*348_*349del
XM_006724746.2:c.*348_*349del	XP_006724809.1:n.*348_*349del
XM_006724747.2:c.*277_*278del	XP_006724810.1:n.*277_*278del
XM_011531316.1:c.*348_*349del	XP_011529618.1:n.*348_*349del
NM_001330659.1:c.*348_*349del	NP_001317588.1:n.*348_*349del
XM_006724744.3:c.*348_*349del	XP_006724807.1:n.*348_*349del
XM_006724745.4:c.*348_*349del	XP_006724808.1:n.*348_*349del
XM_006724746.3:c.*348_*349del	XP_006724809.1:n.*348_*349del
XM_006724747.3:c.*277_*278del	XP_006724810.1:n.*277_*278del
XM_017029357.2:c.*277_*278del	XP_016884846.1:n.*277_*278del
XM_024452353.1:c.*348_*349del	XP_024308121.1:n.*348_*349del
XM_024452354.1:c.*348_*349del	XP_024308122.1:n.*348_*349del
XM_024452355.1:c.*277_*278del	XP_024308123.1:n.*277_*278del
NM_001449.5:c.*277_*278del	NP_001440.2:n.*277_*278del
NM_001159699.2:c.*277_*278del MANE Select	NP_001153171.1:n.*277_*278del
NM_001159700.2:c.*277_*278del	NP_001153172.1:n.*277_*278del
NM_001159701.2:c.*277_*278del	NP_001153173.1:n.*277_*278del
NM_001159702.3:c.*348_*349del MANE Plus Clinical	NP_001153174.1:n.*348_*349del
NM_001159703.2:c.*348_*349del	NP_001153175.1:n.*348_*349del
NM_001330659.2:c.*348_*349del	NP_001317588.1:n.*348_*349del
NM_001369326.1:c.*348_*349del	NP_001356255.1:n.*348_*349del
NM_001369327.1:c.*348_*349del	NP_001356256.1:n.*348_*349del
NM_001369328.1:c.*348_*349del	NP_001356257.1:n.*348_*349del
NM_001369329.1:c.*277_*278del	NP_001356258.1:n.*277_*278del
NM_001369330.1:c.*277_*278del	NP_001356259.1:n.*277_*278del
NM_001369331.1:c.*277_*278del	NP_001356260.1:n.*277_*278del
NM_001369327.2:c.*348_*349del	NP_001356256.1:n.*348_*349del
NR_027621.2:n.1531_1532del