Canonical Allele Identifier: CA2760148022
Gene: FGFR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1804576_1804577insTGAGGATGCCTG , CM000666.2:g.1804576_1804577insTGAGGATGCCTG GRCh38
NC_000004.11:g.1806303_1806304insTGAGGATGCCTG , CM000666.1:g.1806303_1806304insTGAGGATGCCTG GRCh37
NC_000004.10:g.1776101_1776102insTGAGGATGCCTG NCBI36
NG_012632.1:g.16265_16266insTGAGGATGCCTG , LRG_1021:g.16265_16266insTGAGGATGCCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1272+56_1272+57insTGAGGATGCCTG ENSP00000339824.4:n.1272+56_1272+57insTGAGGATGCCTG
ENST00000260795.8:c.*322+56_*322+57insTGAGGATGCCTG ENSP00000260795.3:n.*322+56_*322+57insTGAGGATGCCTG
ENST00000352904.6:c.931-248_931-247insTGAGGATGCCTG ENSP00000231803.1:n.931-248_931-247insTGAGGATGCCTG
ENST00000412135.7:c.1254+56_1254+57insTGAGGATGCCTG ENSP00000412903.3:n.1254+56_1254+57insTGAGGATGCCTG
ENST00000440486.8:c.1266+56_1266+57insTGAGGATGCCTG MANE Select ENSP00000414914.2:n.1266+56_1266+57insTGAGGATGCCTG
ENST00000481110.7:c.1266+56_1266+57insTGAGGATGCCTG ENSP00000420533.2:n.1266+56_1266+57insTGAGGATGCCTG
ENST00000260795.6:c.1266+56_1266+57insTGAGGATGCCTG ENSP00000260795.2:n.1266+56_1266+57insTGAGGATGCCTG
ENST00000340107.8:c.1272+56_1272+57insTGAGGATGCCTG ENSP00000339824.4:n.1272+56_1272+57insTGAGGATGCCTG
ENST00000352904.5:c.931-248_931-247insTGAGGATGCCTG ENSP00000231803.1:n.931-248_931-247insTGAGGATGCCTG
ENST00000412135.6:c.931-248_931-247insTGAGGATGCCTG ENSP00000412903.2:n.931-248_931-247insTGAGGATGCCTG
ENST00000440486.6:c.1266+56_1266+57insTGAGGATGCCTG ENSP00000414914.2:n.1266+56_1266+57insTGAGGATGCCTG
ENST00000469068.1:n.85_86insTGAGGATGCCTG
ENST00000481110.6:c.1266+56_1266+57insTGAGGATGCCTG ENSP00000420533.2:n.1266+56_1266+57insTGAGGATGCCTG
ENST00000613647.4:c.*322+56_*322+57insTGAGGATGCCTG ENSP00000479472.1:n.*322+56_*322+57insTGAGGATGCCTG
NM_000142.4:c.1266+56_1266+57insTGAGGATGCCTG , LRG_1021t1:c.1266+56_1266+57insTGAGGATGCCTG NP_000133.1:n.1266+56_1266+57insTGAGGATGCCTG
NM_001163213.1:c.1272+56_1272+57insTGAGGATGCCTG , LRG_1021t2:c.1272+56_1272+57insTGAGGATGCCTG NP_001156685.1:n.1272+56_1272+57insTGAGGATGCCTG
NM_022965.3:c.931-248_931-247insTGAGGATGCCTG NP_075254.1:n.931-248_931-247insTGAGGATGCCTG
XM_006713868.1:c.1278+50_1278+51insTGAGGATGCCTG XP_006713931.1:n.1278+50_1278+51insTGAGGATGCCTG
XM_006713869.1:c.1278+50_1278+51insTGAGGATGCCTG XP_006713932.1:n.1278+50_1278+51insTGAGGATGCCTG
XM_006713870.1:c.1272+56_1272+57insTGAGGATGCCTG XP_006713933.1:n.1272+56_1272+57insTGAGGATGCCTG
XM_006713871.1:c.1272+56_1272+57insTGAGGATGCCTG XP_006713934.1:n.1272+56_1272+57insTGAGGATGCCTG
XM_006713872.1:c.1266+56_1266+57insTGAGGATGCCTG XP_006713935.1:n.1266+56_1266+57insTGAGGATGCCTG
XM_006713873.1:c.1266+56_1266+57insTGAGGATGCCTG XP_006713936.1:n.1266+56_1266+57insTGAGGATGCCTG
XM_011513420.1:c.1272+50_1272+51insTGAGGATGCCTG XP_011511722.1:n.1272+50_1272+51insTGAGGATGCCTG
XM_011513422.1:c.1266+56_1266+57insTGAGGATGCCTG XP_011511724.1:n.1266+56_1266+57insTGAGGATGCCTG
NM_001354809.1:c.1266+56_1266+57insTGAGGATGCCTG NP_001341738.1:n.1266+56_1266+57insTGAGGATGCCTG
NM_001354810.1:c.1266+56_1266+57insTGAGGATGCCTG NP_001341739.1:n.1266+56_1266+57insTGAGGATGCCTG
NR_148971.1:n.1673+56_1673+57insTGAGGATGCCTG
NM_001354809.2:c.1266+56_1266+57insTGAGGATGCCTG NP_001341738.1:n.1266+56_1266+57insTGAGGATGCCTG
NM_001354810.2:c.1266+56_1266+57insTGAGGATGCCTG NP_001341739.1:n.1266+56_1266+57insTGAGGATGCCTG
NR_148971.2:n.1692+56_1692+57insTGAGGATGCCTG
NM_000142.5:c.1266+56_1266+57insTGAGGATGCCTG MANE Select NP_000133.1:n.1266+56_1266+57insTGAGGATGCCTG
NM_001163213.2:c.1272+56_1272+57insTGAGGATGCCTG NP_001156685.1:n.1272+56_1272+57insTGAGGATGCCTG
NM_022965.4:c.931-248_931-247insTGAGGATGCCTG NP_075254.1:n.931-248_931-247insTGAGGATGCCTG