Canonical Allele Identifier: CA2982693
Gene: FGF5 HGNC NCBI

Linked Data

dbSNP Id: rs761416300
ExAC: 4:81207563 G / GA
gnomAD v2: 4-81207563-G-GA
gnomAD v4: 4-80286409-G-GA
COSMIC: COSM1431303
MyVariant Identifiers: chr4:g.81207564_81207565insA (hg19) chr4:g.81207563_81207564insA (hg19) chr4:g.80286410_80286411insA (hg38) chr4:g.80286409_80286410insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80286415dup , CM000666.2:g.80286415dup GRCh38
NC_000004.11:g.81207569dup , CM000666.1:g.81207569dup GRCh37
NC_000004.10:g.81426593dup NCBI36
NG_029501.1:g.24828dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000312465.12:c.550dup MANE Select ENSP00000311697.7:p.Thr184AsnfsTer11
ENST00000312465.11:c.550dup ENSP00000311697.7:p.Thr184AsnfsTer11
ENST00000456523.3:c.*74dup ENSP00000398353.3:n.*74dup
ENST00000503413.1:n.499dup
ENST00000507780.1:c.342+11403dup ENSP00000423903.1:n.342+11403dup
NM_001291812.1:c.121dup NP_001278741.1:p.Thr41AsnfsTer11
NM_004464.3:c.550dup NP_004455.2:p.Thr184AsnfsTer11
NM_033143.2:c.*74dup NP_149134.1:n.*74dup
NM_001291812.2:c.121dup NP_001278741.1:p.Thr41AsnfsTer11
NM_004464.4:c.550dup MANE Select NP_004455.2:p.Thr184AsnfsTer11
Search 100 bp 5'
Search 100 bp 3'