Canonical Allele Identifier: CA2671179962

Gene: FGF5

Linked Data

• gnomAD v4: 4-80286808-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286809_80286810del , CM000666.2:g.80286809_80286810del	GRCh38
NC_000004.11:g.81207963_81207964del , CM000666.1:g.81207963_81207964del	GRCh37
NC_000004.10:g.81426987_81426988del	NCBI36
NG_029501.1:g.25222_25223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.*137_*138del MANE Select	ENSP00000311697.7:n.*137_*138del
ENST00000312465.11:c.*137_*138del	ENSP00000311697.7:n.*137_*138del
ENST00000456523.3:c.*468_*469del	ENSP00000398353.3:n.*468_*469del
ENST00000503413.1:n.893_894del
ENST00000507780.1:c.342+11797_342+11798del	ENSP00000423903.1:n.342+11797_342+11798del
NM_001291812.1:c.*137_*138del	NP_001278741.1:n.*137_*138del
NM_004464.3:c.*137_*138del	NP_004455.2:n.*137_*138del
NM_033143.2:c.*468_*469del	NP_149134.1:n.*468_*469del
NM_001291812.2:c.*137_*138del	NP_001278741.1:n.*137_*138del
NM_004464.4:c.*137_*138del MANE Select	NP_004455.2:n.*137_*138del