Canonical Allele Identifier: CA2671179854

Gene: FGF5

Linked Data

• gnomAD v4: 4-80286414-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286416_80286417del , CM000666.2:g.80286416_80286417del	GRCh38
NC_000004.11:g.81207570_81207571del , CM000666.1:g.81207570_81207571del	GRCh37
NC_000004.10:g.81426594_81426595del	NCBI36
NG_029501.1:g.24829_24830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.551_552del MANE Select	ENSP00000311697.7:p.Thr184ArgfsTer10
ENST00000312465.11:c.551_552del	ENSP00000311697.7:p.Thr184ArgfsTer10
ENST00000456523.3:c.*75_*76del	ENSP00000398353.3:n.*75_*76del
ENST00000503413.1:n.500_501del
ENST00000507780.1:c.342+11404_342+11405del	ENSP00000423903.1:n.342+11404_342+11405del
NM_001291812.1:c.122_123del	NP_001278741.1:p.Thr41ArgfsTer10
NM_004464.3:c.551_552del	NP_004455.2:p.Thr184ArgfsTer10
NM_033143.2:c.*75_*76del	NP_149134.1:n.*75_*76del
NM_001291812.2:c.122_123del	NP_001278741.1:p.Thr41ArgfsTer10
NM_004464.4:c.551_552del MANE Select	NP_004455.2:p.Thr184ArgfsTer10