Canonical Allele Identifier: CA7037144

Gene: FGF14

Linked Data

• dbSNP Id: rs767029650
• ExAC: 13:102379027 GC / G
• gnomAD v2: 13-102379027-GC-G
• gnomAD v4: 13-101726677-GC-G
• MyVariant Identifiers: chr13:g.102379028del (hg19) ; chr13:g.101726678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101726678del , CM000675.2:g.101726678del	GRCh38
NC_000013.10:g.102379028del , CM000675.1:g.102379028del	GRCh37
NC_000013.9:g.101177029del	NCBI36
NG_008317.1:g.680097del
NG_008317.2:g.680097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376131.9:c.556del	ENSP00000365301.3:p.Ala186LeufsTer2
ENST00000418923.3:c.439del	ENSP00000516414.1:p.Ala147LeufsTer2
ENST00000706491.1:c.*145del	ENSP00000516413.1:n.*145del
ENST00000706492.1:c.*360del	ENSP00000516415.1:n.*360del
ENST00000706493.1:c.*455del	ENSP00000516416.1:n.*455del
ENST00000706494.1:c.289del	ENSP00000516417.1:p.Ala97LeufsTer2
ENST00000376143.5:c.541del MANE Select	ENSP00000365313.4:p.Ala181LeufsTer2
ENST00000376131.8:c.556del	ENSP00000365301.3:p.Ala186LeufsTer2
ENST00000376143.4:c.541del	ENSP00000365313.4:p.Ala181LeufsTer2
NM_004115.3:c.541del	NP_004106.1:p.Ala181LeufsTer2
NM_175929.2:c.556del	NP_787125.1:p.Ala186LeufsTer2
XM_011521053.1:c.361del	XP_011519355.1:p.Ala121LeufsTer2
NM_001321931.1:c.289del	NP_001308860.1:p.Ala97LeufsTer2
NM_001321932.1:c.352del	NP_001308861.1:p.Ala118LeufsTer2
NM_001321933.1:c.361del	NP_001308862.1:p.Ala121LeufsTer2
NM_001321934.1:c.289del	NP_001308863.1:p.Ala97LeufsTer2
NM_001321935.1:c.289del	NP_001308864.1:p.Ala97LeufsTer2
NM_001321936.1:c.352del	NP_001308865.1:p.Ala118LeufsTer2
NM_001321938.1:c.361del	NP_001308867.1:p.Ala121LeufsTer2
NM_001321939.1:c.445del	NP_001308868.1:p.Ala149LeufsTer2
NM_001321940.1:c.361del	NP_001308869.1:p.Ala121LeufsTer2
NM_001321941.1:c.355del	NP_001308870.1:p.Ala119LeufsTer2
NM_001321942.1:c.289del	NP_001308871.1:p.Ala97LeufsTer2
NM_001321943.1:c.289del	NP_001308872.1:p.Ala97LeufsTer2
NM_001321944.1:c.352del	NP_001308873.1:p.Ala118LeufsTer2
NM_001321945.1:c.439del	NP_001308874.1:p.Ala147LeufsTer2
NM_001321946.1:c.289del	NP_001308875.1:p.Ala97LeufsTer2
NM_001321947.1:c.400del	NP_001308876.1:p.Ala134LeufsTer2
NM_001321948.1:c.439del	NP_001308877.1:p.Ala147LeufsTer2
NM_001321949.1:c.289del	NP_001308878.1:p.Ala97LeufsTer2
NM_001321938.2:c.361del	NP_001308867.1:p.Ala121LeufsTer2
NM_001321945.2:c.439del	NP_001308874.1:p.Ala147LeufsTer2
NM_001321946.2:c.289del	NP_001308875.1:p.Ala97LeufsTer2
NM_001321947.2:c.400del	NP_001308876.1:p.Ala134LeufsTer2
NM_001321948.2:c.439del	NP_001308877.1:p.Ala147LeufsTer2
NM_001321939.2:c.445del	NP_001308868.1:p.Ala149LeufsTer2
NM_001321941.2:c.355del	NP_001308870.1:p.Ala119LeufsTer2
NM_001379342.1:c.439del	NP_001366271.1:p.Ala147LeufsTer2
NM_004115.4:c.541del MANE Select	NP_004106.1:p.Ala181LeufsTer2
NM_175929.3:c.556del	NP_787125.1:p.Ala186LeufsTer2