Canonical Allele Identifier: CA255325419

Gene: FGF14 FGF14-IT1

Linked Data

• dbSNP Id: rs900919375
• gnomAD v2: 13-102965342-TCTC-T
• gnomAD v3: 13-102312992-TCTC-T
• gnomAD v4: 13-102312992-TCTC-T
• MyVariant Identifiers: chr13:g.102965343_102965345del (hg19) ; chr13:g.102312993_102312995del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102313001_102313003del , CM000675.2:g.102313001_102313003del	GRCh38
NC_000013.10:g.102965351_102965353del , CM000675.1:g.102965351_102965353del	GRCh37
NC_000013.9:g.101763352_101763354del	NCBI36
NG_008317.1:g.93780_93782del
NG_008317.2:g.93780_93782del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376131.9:c.208+88476_208+88478del (FGF14)	ENSP00000365301.3:n.208+88476_208+88478del
ENST00000418923.3:c.91+88476_91+88478del (FGF14)	ENSP00000516414.1:n.91+88476_91+88478del
ENST00000706491.1:c.208+88476_208+88478del (FGF14)	ENSP00000516413.1:n.208+88476_208+88478del
ENST00000706492.1:c.*12+80763_*12+80765del (FGF14)	ENSP00000516415.1:n.*12+80763_*12+80765del
ENST00000706493.1:c.*107+53450_*107+53452del (FGF14)	ENSP00000516416.1:n.*107+53450_*107+53452del
ENST00000706494.1:c.-60+53450_-60+53452del (FGF14)	ENSP00000516417.1:n.-60+53450_-60+53452del
ENST00000376131.8:c.208+88476_208+88478del (FGF14)	ENSP00000365301.3:n.208+88476_208+88478del
NM_175929.2:c.208+88476_208+88478del (FGF14)	NP_787125.1:n.208+88476_208+88478del
NR_036486.1:n.410-18955_410-18953del (FGF14-IT1)
NM_001321935.1:c.-60+4641_-60+4643del (FGF14)	NP_001308864.1:n.-60+4641_-60+4643del
NM_001321936.1:c.-324+4641_-324+4643del (FGF14)	NP_001308865.1:n.-324+4641_-324+4643del
NM_001321937.1:c.208+88476_208+88478del (FGF14)	NP_001308866.1:n.208+88476_208+88478del
NM_001321938.1:c.-225+88476_-225+88478del (FGF14)	NP_001308867.1:n.-225+88476_-225+88478del
NM_001321939.1:c.208+88476_208+88478del (FGF14)	NP_001308868.1:n.208+88476_208+88478del
NM_001321940.1:c.-225+88476_-225+88478del (FGF14)	NP_001308869.1:n.-225+88476_-225+88478del
NM_001321941.1:c.-60-18955_-60-18953del (FGF14)	NP_001308870.1:n.-60-18955_-60-18953del
NM_001321942.1:c.-60+80763_-60+80765del (FGF14)	NP_001308871.1:n.-60+80763_-60+80765del
NM_001321943.1:c.-171+88476_-171+88478del (FGF14)	NP_001308872.1:n.-171+88476_-171+88478del
NM_001321944.1:c.-324+88476_-324+88478del (FGF14)	NP_001308873.1:n.-324+88476_-324+88478del
NM_001321945.1:c.91+88476_91+88478del (FGF14)	NP_001308874.1:n.91+88476_91+88478del
NM_001321946.1:c.-60+53450_-60+53452del (FGF14)	NP_001308875.1:n.-60+53450_-60+53452del
NM_001321947.1:c.52+88476_52+88478del (FGF14)	NP_001308876.1:n.52+88476_52+88478del
NM_001321948.1:c.91+88476_91+88478del (FGF14)	NP_001308877.1:n.91+88476_91+88478del
NM_001321949.1:c.-60+53450_-60+53452del (FGF14)	NP_001308878.1:n.-60+53450_-60+53452del
NM_001321938.2:c.-225+88476_-225+88478del (FGF14)	NP_001308867.1:n.-225+88476_-225+88478del
NM_001321945.2:c.91+88476_91+88478del (FGF14)	NP_001308874.1:n.91+88476_91+88478del
NM_001321946.2:c.-60+53450_-60+53452del (FGF14)	NP_001308875.1:n.-60+53450_-60+53452del
NM_001321947.2:c.52+88476_52+88478del (FGF14)	NP_001308876.1:n.52+88476_52+88478del
NM_001321948.2:c.91+88476_91+88478del (FGF14)	NP_001308877.1:n.91+88476_91+88478del
NM_001321937.2:c.208+88476_208+88478del (FGF14)	NP_001308866.1:n.208+88476_208+88478del
NM_001321939.2:c.208+88476_208+88478del (FGF14)	NP_001308868.1:n.208+88476_208+88478del
NM_001321941.2:c.-60-18955_-60-18953del (FGF14)	NP_001308870.1:n.-60-18955_-60-18953del
NM_001379342.1:c.91+88476_91+88478del (FGF14)	NP_001366271.1:n.91+88476_91+88478del
NM_175929.3:c.208+88476_208+88478del (FGF14)	NP_787125.1:n.208+88476_208+88478del