Canonical Allele Identifier: CA553082899

Gene: FGF5

Linked Data

• dbSNP Id: rs1189402873
• gnomAD v2: 4-81207636-T-TTAAA
• gnomAD v4: 4-80286482-T-TTAAA
• MyVariant Identifiers: chr4:g.81207636_81207637insTAAA (hg19) ; chr4:g.80286482_80286483insTAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286483_80286486dup , CM000666.2:g.80286483_80286486dup	GRCh38
NC_000004.11:g.81207637_81207640dup , CM000666.1:g.81207637_81207640dup	GRCh37
NC_000004.10:g.81426661_81426664dup	NCBI36
NG_029501.1:g.24896_24899dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.618_621dup MANE Select	ENSP00000311697.7:p.Pro208Ter
ENST00000312465.11:c.618_621dup	ENSP00000311697.7:p.Pro208Ter
ENST00000456523.3:c.*142_*145dup	ENSP00000398353.3:n.*142_*145dup
ENST00000503413.1:n.567_570dup
ENST00000507780.1:c.342+11471_342+11474dup	ENSP00000423903.1:n.342+11471_342+11474dup
NM_001291812.1:c.189_192dup	NP_001278741.1:p.Pro65Ter
NM_004464.3:c.618_621dup	NP_004455.2:p.Pro208Ter
NM_033143.2:c.*142_*145dup	NP_149134.1:n.*142_*145dup
NM_001291812.2:c.189_192dup	NP_001278741.1:p.Pro65Ter
NM_004464.4:c.618_621dup MANE Select	NP_004455.2:p.Pro208Ter