Canonical Allele Identifier: CA612087323

Gene: FGF14 FGF14-IT1

Linked Data

• dbSNP Id: rs2138690482
• gnomAD v2: 13-102964589-AGGC-A
• gnomAD v3: 13-102312239-AGGC-A
• gnomAD v4: 13-102312239-AGGC-A
• MyVariant Identifiers: chr13:g.102964590_102964623delinsAAACTCTGCTTGCTCATTTAAATGAAAGCAG (hg19) ; chr13:g.102312240_102312273delinsAAACTCTGCTTGCTCATTTAAATGAAAGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102312240_102312242del , CM000675.2:g.102312240_102312242del	GRCh38
NC_000013.10:g.102964590_102964592del , CM000675.1:g.102964590_102964592del	GRCh37
NC_000013.9:g.101762591_101762593del	NCBI36
NG_008317.1:g.94533_94535del
NG_008317.2:g.94533_94535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376131.9:c.208+89229_208+89231del (FGF14)	ENSP00000365301.3:n.208+89229_208+89231del
ENST00000418923.3:c.91+89229_91+89231del (FGF14)	ENSP00000516414.1:n.91+89229_91+89231del
ENST00000706491.1:c.208+89229_208+89231del (FGF14)	ENSP00000516413.1:n.208+89229_208+89231del
ENST00000706492.1:c.*12+81516_*12+81518del (FGF14)	ENSP00000516415.1:n.*12+81516_*12+81518del
ENST00000706493.1:c.*107+54203_*107+54205del (FGF14)	ENSP00000516416.1:n.*107+54203_*107+54205del
ENST00000706494.1:c.-60+54203_-60+54205del (FGF14)	ENSP00000516417.1:n.-60+54203_-60+54205del
ENST00000376131.8:c.208+89229_208+89231del (FGF14)	ENSP00000365301.3:n.208+89229_208+89231del
NM_175929.2:c.208+89229_208+89231del (FGF14)	NP_787125.1:n.208+89229_208+89231del
NR_036486.1:n.410-18202_410-18200del (FGF14-IT1)
NM_001321935.1:c.-60+5394_-60+5396del (FGF14)	NP_001308864.1:n.-60+5394_-60+5396del
NM_001321936.1:c.-324+5394_-324+5396del (FGF14)	NP_001308865.1:n.-324+5394_-324+5396del
NM_001321937.1:c.208+89229_208+89231del (FGF14)	NP_001308866.1:n.208+89229_208+89231del
NM_001321938.1:c.-225+89229_-225+89231del (FGF14)	NP_001308867.1:n.-225+89229_-225+89231del
NM_001321939.1:c.208+89229_208+89231del (FGF14)	NP_001308868.1:n.208+89229_208+89231del
NM_001321940.1:c.-225+89229_-225+89231del (FGF14)	NP_001308869.1:n.-225+89229_-225+89231del
NM_001321941.1:c.-60-18202_-60-18200del (FGF14)	NP_001308870.1:n.-60-18202_-60-18200del
NM_001321942.1:c.-60+81516_-60+81518del (FGF14)	NP_001308871.1:n.-60+81516_-60+81518del
NM_001321943.1:c.-171+89229_-171+89231del (FGF14)	NP_001308872.1:n.-171+89229_-171+89231del
NM_001321944.1:c.-324+89229_-324+89231del (FGF14)	NP_001308873.1:n.-324+89229_-324+89231del
NM_001321945.1:c.91+89229_91+89231del (FGF14)	NP_001308874.1:n.91+89229_91+89231del
NM_001321946.1:c.-60+54203_-60+54205del (FGF14)	NP_001308875.1:n.-60+54203_-60+54205del
NM_001321947.1:c.52+89229_52+89231del (FGF14)	NP_001308876.1:n.52+89229_52+89231del
NM_001321948.1:c.91+89229_91+89231del (FGF14)	NP_001308877.1:n.91+89229_91+89231del
NM_001321949.1:c.-60+54203_-60+54205del (FGF14)	NP_001308878.1:n.-60+54203_-60+54205del
XR_001750081.2:n.6248-503_6248-501del
NM_001321938.2:c.-225+89229_-225+89231del (FGF14)	NP_001308867.1:n.-225+89229_-225+89231del
NM_001321945.2:c.91+89229_91+89231del (FGF14)	NP_001308874.1:n.91+89229_91+89231del
NM_001321946.2:c.-60+54203_-60+54205del (FGF14)	NP_001308875.1:n.-60+54203_-60+54205del
NM_001321947.2:c.52+89229_52+89231del (FGF14)	NP_001308876.1:n.52+89229_52+89231del
NM_001321948.2:c.91+89229_91+89231del (FGF14)	NP_001308877.1:n.91+89229_91+89231del
NM_001321937.2:c.208+89229_208+89231del (FGF14)	NP_001308866.1:n.208+89229_208+89231del
NM_001321939.2:c.208+89229_208+89231del (FGF14)	NP_001308868.1:n.208+89229_208+89231del
NM_001321941.2:c.-60-18202_-60-18200del (FGF14)	NP_001308870.1:n.-60-18202_-60-18200del
NM_001379342.1:c.91+89229_91+89231del (FGF14)	NP_001366271.1:n.91+89229_91+89231del
NM_175929.3:c.208+89229_208+89231del (FGF14)	NP_787125.1:n.208+89229_208+89231del