Canonical Allele Identifier: CA1064597052

Gene: FGF5

Linked Data

• dbSNP Id: rs1720730181
• gnomAD v3: 4-80286543-ACTTT-A
• gnomAD v4: 4-80286543-ACTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286549_80286552del , CM000666.2:g.80286549_80286552del	GRCh38
NC_000004.11:g.81207703_81207706del , CM000666.1:g.81207703_81207706del	GRCh37
NC_000004.10:g.81426727_81426730del	NCBI36
NG_029501.1:g.24962_24965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.684_687del MANE Select	ENSP00000311697.7:p.Phe229ArgfsTer?
ENST00000312465.11:c.684_687del	ENSP00000311697.7:p.Phe229ArgfsTer?
ENST00000456523.3:c.*208_*211del	ENSP00000398353.3:n.*208_*211del
ENST00000503413.1:n.633_636del
ENST00000507780.1:c.342+11537_342+11540del	ENSP00000423903.1:n.342+11537_342+11540del
NM_001291812.1:c.255_258del	NP_001278741.1:p.Phe86ArgfsTer?
NM_004464.3:c.684_687del	NP_004455.2:p.Phe229ArgfsTer?
NM_033143.2:c.*208_*211del	NP_149134.1:n.*208_*211del
NM_001291812.2:c.255_258del	NP_001278741.1:p.Phe86ArgfsTer?
NM_004464.4:c.684_687del MANE Select	NP_004455.2:p.Phe229ArgfsTer?