Canonical Allele Identifier: CA645527541
Gene: FGF5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286557_80286558dup , CM000666.2:g.80286557_80286558dup GRCh38
NC_000004.11:g.81207711_81207712dup , CM000666.1:g.81207711_81207712dup GRCh37
NC_000004.10:g.81426735_81426736dup NCBI36
NG_029501.1:g.24970_24971dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.692_693dup MANE Select ENSP00000311697.7:p.Thr232LeufsTer29
ENST00000312465.11:c.692_693dup ENSP00000311697.7:p.Thr232LeufsTer29
ENST00000456523.3:c.*216_*217dup ENSP00000398353.3:n.*216_*217dup
ENST00000503413.1:n.641_642dup
ENST00000507780.1:c.342+11545_342+11546dup ENSP00000423903.1:n.342+11545_342+11546dup
NM_001291812.1:c.263_264dup NP_001278741.1:p.Thr89LeufsTer29
NM_004464.3:c.692_693dup NP_004455.2:p.Thr232LeufsTer29
NM_033143.2:c.*216_*217dup NP_149134.1:n.*216_*217dup
NM_001291812.2:c.263_264dup NP_001278741.1:p.Thr89LeufsTer29
NM_004464.4:c.692_693dup MANE Select NP_004455.2:p.Thr232LeufsTer29