Canonical Allele Identifier: CA2671179859
Gene: FGF5 HGNC NCBI

Linked Data

gnomAD v4: 4-80286591-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286592del , CM000666.2:g.80286592del GRCh38
NC_000004.11:g.81207746del , CM000666.1:g.81207746del GRCh37
NC_000004.10:g.81426770del NCBI36
NG_029501.1:g.25005del

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.727del MANE Select ENSP00000311697.7:p.Ile243SerfsTer17
ENST00000312465.11:c.727del ENSP00000311697.7:p.Ile243SerfsTer17
ENST00000456523.3:c.*251del ENSP00000398353.3:n.*251del
ENST00000503413.1:n.676del
ENST00000507780.1:c.342+11580del ENSP00000423903.1:n.342+11580del
NM_001291812.1:c.298del NP_001278741.1:p.Ile100SerfsTer17
NM_004464.3:c.727del NP_004455.2:p.Ile243SerfsTer17
NM_033143.2:c.*251del NP_149134.1:n.*251del
NM_001291812.2:c.298del NP_001278741.1:p.Ile100SerfsTer17
NM_004464.4:c.727del MANE Select NP_004455.2:p.Ile243SerfsTer17
Search 100 bp 5'
Search 100 bp 3'