Canonical Allele Identifier: CA16618038
Gene: FGFR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 423158
ClinVar RCV Id: RCV000479750
dbSNP Id: rs1064796266

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1807248_1807267delinsCCCTG , CM000666.2:g.1807248_1807267delinsCCCTG GRCh38
NC_000004.11:g.1808975_1808994delinsCCCTG , CM000666.1:g.1808975_1808994delinsCCCTG GRCh37
NC_000004.10:g.1778773_1778792delinsCCCTG NCBI36
NG_012632.1:g.18937_18956delinsCCCTG , LRG_1021:g.18937_18956delinsCCCTG

Transcript Alleles

HGVS Amino-acid change
ENST00000340107.9:c.2413_*5delinsCCCTG ENSP00000339824.4:n.[c.2413_*5delinsCCCTG...
ENST00000260795.8:c.*1463_*1482delinsCCCTG ENSP00000260795.3:n.*1463_*1482delinsCCCT...
ENST00000352904.6:c.2071_*5delinsCCCTG ENSP00000231803.1:n.[c.2071_*5delinsCCCTG...
ENST00000412135.7:c.2395_*5delinsCCCTG ENSP00000412903.3:n.[c.2395_*5delinsCCCTG...
ENST00000440486.8:c.2407_*5delinsCCCTG MANE Select ENSP00000414914.2:n.[c.2407_*5delinsCCCTG...
ENST00000481110.7:c.2339_2358delinsCCCTG ENSP00000420533.2:p.Gly780_Gly786delinsAl...
ENST00000260795.6:c.2407_*5delinsCCCTG ENSP00000260795.2:n.[c.2407_*5delinsCCCTG...
ENST00000340107.8:c.2413_*5delinsCCCTG ENSP00000339824.4:n.[c.2413_*5delinsCCCTG...
ENST00000352904.5:c.2071_*5delinsCCCTG ENSP00000231803.1:n.[c.2071_*5delinsCCCTG...
ENST00000412135.6:c.2071_*5delinsCCCTG ENSP00000412903.2:n.[c.2071_*5delinsCCCTG...
ENST00000440486.6:c.2407_*5delinsCCCTG ENSP00000414914.2:n.[c.2407_*5delinsCCCTG...
ENST00000481110.6:c.2339_2358delinsCCCTG ENSP00000420533.2:p.Gly780_Gly786delinsAl...
ENST00000613647.4:c.*1463_*1482delinsCCCTG ENSP00000479472.1:n.*1463_*1482delinsCCCT...
NM_000142.4:c.2407_*5delinsCCCTG , LRG_1021t1:c.2407_*5delinsCCCTG NP_000133.1:n.[c.2407_*5delinsCCCTG;Gly80...
NM_001163213.1:c.2413_*5delinsCCCTG , LRG_1021t2:c.2413_*5delinsCCCTG NP_001156685.1:n.[c.2413_*5delinsCCCTG;Gl...
NM_022965.3:c.2071_*5delinsCCCTG NP_075254.1:n.[c.2071_*5delinsCCCTG;Gly69...
XM_006713868.1:c.2422_*5delinsCCCTG XP_006713931.1:n.[c.2422_*5delinsCCCTG;Gl...
XM_006713869.1:c.2419_*5delinsCCCTG XP_006713932.1:n.[c.2419_*5delinsCCCTG;Gl...
XM_006713870.1:c.2419_*5delinsCCCTG XP_006713933.1:n.[c.2419_*5delinsCCCTG;Gl...
XM_006713871.1:c.2416_*5delinsCCCTG XP_006713934.1:n.[c.2416_*5delinsCCCTG;Gl...
XM_006713872.1:c.2410_*5delinsCCCTG XP_006713935.1:n.[c.2410_*5delinsCCCTG;Gl...
XM_006713873.1:c.2410_*5delinsCCCTG XP_006713936.1:n.[c.2410_*5delinsCCCTG;Gl...
XM_011513420.1:c.2416_*5delinsCCCTG XP_011511722.1:n.[c.2416_*5delinsCCCTG;Gl...
XM_011513422.1:c.2413_*5delinsCCCTG XP_011511724.1:n.[c.2413_*5delinsCCCTG;Gl...
NM_001354809.1:c.2410_*5delinsCCCTG NP_001341738.1:n.[c.2410_*5delinsCCCTG;Gl...
NM_001354810.1:c.2339_2358delinsCCCTG NP_001341739.1:p.Gly780_Gly786delinsAlaLe...
NR_148971.1:n.2814_2833delinsCCCTG
NM_001354809.2:c.2410_*5delinsCCCTG NP_001341738.1:n.[c.2410_*5delinsCCCTG;Gl...
NM_001354810.2:c.2339_2358delinsCCCTG NP_001341739.1:p.Gly780_Gly786delinsAlaLe...
NR_148971.2:n.2833_2852delinsCCCTG
NM_000142.5:c.2407_*5delinsCCCTG MANE Select NP_000133.1:n.[c.2407_*5delinsCCCTG;Gly80...
NM_001163213.2:c.2413_*5delinsCCCTG NP_001156685.1:n.[c.2413_*5delinsCCCTG;Gl...
NM_022965.4:c.2071_*5delinsCCCTG NP_075254.1:n.[c.2071_*5delinsCCCTG;Gly69...