Canonical Allele Identifier: CA2830537246

Gene: FGF5

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286551_80286552insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG , CM000666.2:g.80286551_80286552insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG	GRCh38
NC_000004.11:g.81207705_81207706insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG , CM000666.1:g.81207705_81207706insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG	GRCh37
NC_000004.10:g.81426729_81426730insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG	NCBI36
NG_029501.1:g.24964_24965insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.686_687insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG MANE Select	ENSP00000311697.7:p.Thr230GlnfsTer4
ENST00000312465.11:c.686_687insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG	ENSP00000311697.7:p.Thr230GlnfsTer4
ENST00000456523.3:c.*210_*211insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG	ENSP00000398353.3:n.*210_*211insTCAGGAACAGTAACCGTGAAAGAAAGTTC...
ENST00000503413.1:n.635_636insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG
ENST00000507780.1:c.342+11539_342+11540insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG	ENSP00000423903.1:n.342+11539_342+11540insTCAGGAACAGTAACCGTGA...
NM_001291812.1:c.257_258insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG	NP_001278741.1:p.Thr87GlnfsTer4
NM_004464.3:c.686_687insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG	NP_004455.2:p.Thr230GlnfsTer4
NM_033143.2:c.*210_*211insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG	NP_149134.1:n.*210_*211insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG
NM_001291812.2:c.257_258insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG	NP_001278741.1:p.Thr87GlnfsTer4
NM_004464.4:c.686_687insTCAGGAACAGTAACCGTGAAAGAAAGTTCTGG MANE Select	NP_004455.2:p.Thr230GlnfsTer4