Canonical Allele Identifier: CA2704961349
Gene: FGFR3 HGNC NCBI

Linked Data

dbSNP Id: rs2108801572

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805249_1805250insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA , CM000666.2:g.1805249_1805250insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA GRCh38
NC_000004.11:g.1806976_1806977insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA , CM000666.1:g.1806976_1806977insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA GRCh37
NC_000004.10:g.1776774_1776775insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA NCBI36
NG_012632.1:g.16938_16939insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA , LRG_1021:g.16938_16939insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1419-106_1419-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA ENSP00000339824.4:n.1419-106_1419-105insAGGCTGTAGGGGGAGCATGGA...
ENST00000260795.8:c.*469-106_*469-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA ENSP00000260795.3:n.*469-106_*469-105insAGGCTGTAGGGGGAGCATGGA...
ENST00000352904.6:c.1077-106_1077-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA ENSP00000231803.1:n.1077-106_1077-105insAGGCTGTAGGGGGAGCATGGA...
ENST00000412135.7:c.1401-106_1401-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA ENSP00000412903.3:n.1401-106_1401-105insAGGCTGTAGGGGGAGCATGGA...
ENST00000440486.8:c.1413-106_1413-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA MANE Select ENSP00000414914.2:n.1413-106_1413-105insAGGCTGTAGGGGGAGCATGGA...
ENST00000481110.7:c.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA ENSP00000420533.2:n.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGA...
ENST00000260795.6:c.1413-106_1413-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA ENSP00000260795.2:n.1413-106_1413-105insAGGCTGTAGGGGGAGCATGGA...
ENST00000340107.8:c.1419-106_1419-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA ENSP00000339824.4:n.1419-106_1419-105insAGGCTGTAGGGGGAGCATGGA...
ENST00000352904.5:c.1077-106_1077-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA ENSP00000231803.1:n.1077-106_1077-105insAGGCTGTAGGGGGAGCATGGA...
ENST00000412135.6:c.1077-106_1077-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA ENSP00000412903.2:n.1077-106_1077-105insAGGCTGTAGGGGGAGCATGGA...
ENST00000440486.6:c.1413-106_1413-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA ENSP00000414914.2:n.1413-106_1413-105insAGGCTGTAGGGGGAGCATGGA...
ENST00000469068.1:n.479-106_479-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA
ENST00000481110.6:c.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA ENSP00000420533.2:n.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGA...
ENST00000613647.4:c.*469-106_*469-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA ENSP00000479472.1:n.*469-106_*469-105insAGGCTGTAGGGGGAGCATGGA...
NM_000142.4:c.1413-106_1413-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA , LRG_1021t1:c.1413-106_1413-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA NP_000133.1:n.1413-106_1413-105insAGGCTGTAGGGGGAGCATGGAGGGCTG...
NM_001163213.1:c.1419-106_1419-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA , LRG_1021t2:c.1419-106_1419-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA NP_001156685.1:n.1419-106_1419-105insAGGCTGTAGGGGGAGCATGGAGGG...
NM_022965.3:c.1077-106_1077-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA NP_075254.1:n.1077-106_1077-105insAGGCTGTAGGGGGAGCATGGAGGGCTG...
XM_006713868.1:c.1425-106_1425-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA XP_006713931.1:n.1425-106_1425-105insAGGCTGTAGGGGGAGCATGGAGGG...
XM_006713869.1:c.1425-106_1425-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA XP_006713932.1:n.1425-106_1425-105insAGGCTGTAGGGGGAGCATGGAGGG...
XM_006713870.1:c.1422-106_1422-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA XP_006713933.1:n.1422-106_1422-105insAGGCTGTAGGGGGAGCATGGAGGG...
XM_006713871.1:c.1419-106_1419-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA XP_006713934.1:n.1419-106_1419-105insAGGCTGTAGGGGGAGCATGGAGGG...
XM_006713872.1:c.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA XP_006713935.1:n.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGAGGG...
XM_006713873.1:c.1413-106_1413-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA XP_006713936.1:n.1413-106_1413-105insAGGCTGTAGGGGGAGCATGGAGGG...
XM_011513420.1:c.1419-106_1419-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA XP_011511722.1:n.1419-106_1419-105insAGGCTGTAGGGGGAGCATGGAGGG...
XM_011513422.1:c.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA XP_011511724.1:n.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGAGGG...
NM_001354809.1:c.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA NP_001341738.1:n.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGAGGG...
NM_001354810.1:c.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA NP_001341739.1:n.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGAGGG...
NR_148971.1:n.1820-106_1820-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA
NM_001354809.2:c.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA NP_001341738.1:n.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGAGGG...
NM_001354810.2:c.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA NP_001341739.1:n.1416-106_1416-105insAGGCTGTAGGGGGAGCATGGAGGG...
NR_148971.2:n.1839-106_1839-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA
NM_000142.5:c.1413-106_1413-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA MANE Select NP_000133.1:n.1413-106_1413-105insAGGCTGTAGGGGGAGCATGGAGGGCTG...
NM_001163213.2:c.1419-106_1419-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA NP_001156685.1:n.1419-106_1419-105insAGGCTGTAGGGGGAGCATGGAGGG...
NM_022965.4:c.1077-106_1077-105insAGGCTGTAGGGGGAGCATGGAGGGCTGTAGGGGGAGCA NP_075254.1:n.1077-106_1077-105insAGGCTGTAGGGGGAGCATGGAGGGCTG...