Canonical Allele Identifier: CA553082850

Gene: FGF5

Linked Data

• dbSNP Id: rs1560502769
• gnomAD v2: 4-81207748-C-CT
• gnomAD v4: 4-80286594-C-CT
• MyVariant Identifiers: chr4:g.81207748_81207749insT (hg19) ; chr4:g.80286594_80286595insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80286594_80286595insT , CM000666.2:g.80286594_80286595insT	GRCh38
NC_000004.11:g.81207748_81207749insT , CM000666.1:g.81207748_81207749insT	GRCh37
NC_000004.10:g.81426772_81426773insT	NCBI36
NG_029501.1:g.25007_25008insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312465.12:c.729_730insT MANE Select	ENSP00000311697.7:p.Lys244Ter
ENST00000312465.11:c.729_730insT	ENSP00000311697.7:p.Lys244Ter
ENST00000456523.3:c.*253_*254insT	ENSP00000398353.3:n.*253_*254insT
ENST00000503413.1:n.678_679insT
ENST00000507780.1:c.342+11582_342+11583insT	ENSP00000423903.1:n.342+11582_342+11583insT
NM_001291812.1:c.300_301insT	NP_001278741.1:p.Lys101Ter
NM_004464.3:c.729_730insT	NP_004455.2:p.Lys244Ter
NM_033143.2:c.*253_*254insT	NP_149134.1:n.*253_*254insT
NM_001291812.2:c.300_301insT	NP_001278741.1:p.Lys101Ter
NM_004464.4:c.729_730insT MANE Select	NP_004455.2:p.Lys244Ter