Canonical Allele Identifier: CA612087319

Gene: FGF14 FGF14-IT1

Linked Data

• dbSNP Id: rs34575465
• gnomAD v2: 13-102964572-C-CAAA
• gnomAD v3: 13-102312222-C-CAAA
• gnomAD v4: 13-102312222-C-CAAA
• MyVariant Identifiers: chr13:g.102964575_102964576insAAA (hg19) ; chr13:g.102964572_102964573insAAA (hg19) ; chr13:g.102312225_102312226insAAA (hg38) ; chr13:g.102312222_102312223insAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102312237_102312239dup , CM000675.2:g.102312237_102312239dup	GRCh38
NC_000013.10:g.102964587_102964589dup , CM000675.1:g.102964587_102964589dup	GRCh37
NC_000013.9:g.101762588_101762590dup	NCBI36
NG_008317.1:g.94550_94552dup
NG_008317.2:g.94550_94552dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376131.9:c.208+89246_208+89248dup (FGF14)	ENSP00000365301.3:n.208+89246_208+89248dup
ENST00000418923.3:c.91+89246_91+89248dup (FGF14)	ENSP00000516414.1:n.91+89246_91+89248dup
ENST00000706491.1:c.208+89246_208+89248dup (FGF14)	ENSP00000516413.1:n.208+89246_208+89248dup
ENST00000706492.1:c.*12+81533_*12+81535dup (FGF14)	ENSP00000516415.1:n.*12+81533_*12+81535dup
ENST00000706493.1:c.*107+54220_*107+54222dup (FGF14)	ENSP00000516416.1:n.*107+54220_*107+54222dup
ENST00000706494.1:c.-60+54220_-60+54222dup (FGF14)	ENSP00000516417.1:n.-60+54220_-60+54222dup
ENST00000376131.8:c.208+89246_208+89248dup (FGF14)	ENSP00000365301.3:n.208+89246_208+89248dup
NM_175929.2:c.208+89246_208+89248dup (FGF14)	NP_787125.1:n.208+89246_208+89248dup
NR_036486.1:n.410-18185_410-18183dup (FGF14-IT1)
NM_001321935.1:c.-60+5411_-60+5413dup (FGF14)	NP_001308864.1:n.-60+5411_-60+5413dup
NM_001321936.1:c.-324+5411_-324+5413dup (FGF14)	NP_001308865.1:n.-324+5411_-324+5413dup
NM_001321937.1:c.208+89246_208+89248dup (FGF14)	NP_001308866.1:n.208+89246_208+89248dup
NM_001321938.1:c.-225+89246_-225+89248dup (FGF14)	NP_001308867.1:n.-225+89246_-225+89248dup
NM_001321939.1:c.208+89246_208+89248dup (FGF14)	NP_001308868.1:n.208+89246_208+89248dup
NM_001321940.1:c.-225+89246_-225+89248dup (FGF14)	NP_001308869.1:n.-225+89246_-225+89248dup
NM_001321941.1:c.-60-18185_-60-18183dup (FGF14)	NP_001308870.1:n.-60-18185_-60-18183dup
NM_001321942.1:c.-60+81533_-60+81535dup (FGF14)	NP_001308871.1:n.-60+81533_-60+81535dup
NM_001321943.1:c.-171+89246_-171+89248dup (FGF14)	NP_001308872.1:n.-171+89246_-171+89248dup
NM_001321944.1:c.-324+89246_-324+89248dup (FGF14)	NP_001308873.1:n.-324+89246_-324+89248dup
NM_001321945.1:c.91+89246_91+89248dup (FGF14)	NP_001308874.1:n.91+89246_91+89248dup
NM_001321946.1:c.-60+54220_-60+54222dup (FGF14)	NP_001308875.1:n.-60+54220_-60+54222dup
NM_001321947.1:c.52+89246_52+89248dup (FGF14)	NP_001308876.1:n.52+89246_52+89248dup
NM_001321948.1:c.91+89246_91+89248dup (FGF14)	NP_001308877.1:n.91+89246_91+89248dup
NM_001321949.1:c.-60+54220_-60+54222dup (FGF14)	NP_001308878.1:n.-60+54220_-60+54222dup
XR_001750081.2:n.6248-506_6248-504dup
NM_001321938.2:c.-225+89246_-225+89248dup (FGF14)	NP_001308867.1:n.-225+89246_-225+89248dup
NM_001321945.2:c.91+89246_91+89248dup (FGF14)	NP_001308874.1:n.91+89246_91+89248dup
NM_001321946.2:c.-60+54220_-60+54222dup (FGF14)	NP_001308875.1:n.-60+54220_-60+54222dup
NM_001321947.2:c.52+89246_52+89248dup (FGF14)	NP_001308876.1:n.52+89246_52+89248dup
NM_001321948.2:c.91+89246_91+89248dup (FGF14)	NP_001308877.1:n.91+89246_91+89248dup
NM_001321937.2:c.208+89246_208+89248dup (FGF14)	NP_001308866.1:n.208+89246_208+89248dup
NM_001321939.2:c.208+89246_208+89248dup (FGF14)	NP_001308868.1:n.208+89246_208+89248dup
NM_001321941.2:c.-60-18185_-60-18183dup (FGF14)	NP_001308870.1:n.-60-18185_-60-18183dup
NM_001379342.1:c.91+89246_91+89248dup (FGF14)	NP_001366271.1:n.91+89246_91+89248dup
NM_175929.3:c.208+89246_208+89248dup (FGF14)	NP_787125.1:n.208+89246_208+89248dup