Canonical Allele Identifier: CA553082900

Gene: FGF5

Linked Data

• dbSNP Id: rs1164403067
• gnomAD v2: 4-81207649-T-TGTAATAA
• MyVariant Identifiers: chr4:g.81207649_81207650insGTAATAA (hg19) ; chr4:g.80286495_80286496insGTAATAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286495_80286496insGTAATAA , CM000666.2:g.80286495_80286496insGTAATAA	GRCh38
NC_000004.11:g.81207649_81207650insGTAATAA , CM000666.1:g.81207649_81207650insGTAATAA	GRCh37
NC_000004.10:g.81426673_81426674insGTAATAA	NCBI36
NG_029501.1:g.24908_24909insGTAATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.630_631insGTAATAA MANE Select	ENSP00000311697.7:p.Ile211ValfsTer27
ENST00000312465.11:c.630_631insGTAATAA	ENSP00000311697.7:p.Ile211ValfsTer27
ENST00000456523.3:c.*154_*155insGTAATAA	ENSP00000398353.3:n.*154_*155insGTAATAA
ENST00000503413.1:n.579_580insGTAATAA
ENST00000507780.1:c.342+11483_342+11484insGTAATAA	ENSP00000423903.1:n.342+11483_342+11484insGTAATAA
NM_001291812.1:c.201_202insGTAATAA	NP_001278741.1:p.Ile68ValfsTer27
NM_004464.3:c.630_631insGTAATAA	NP_004455.2:p.Ile211ValfsTer27
NM_033143.2:c.*154_*155insGTAATAA	NP_149134.1:n.*154_*155insGTAATAA
NM_001291812.2:c.201_202insGTAATAA	NP_001278741.1:p.Ile68ValfsTer27
NM_004464.4:c.630_631insGTAATAA MANE Select	NP_004455.2:p.Ile211ValfsTer27