Canonical Allele Identifier: CA2760147787
Gene: FGFR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1803914_1803915del , CM000666.2:g.1803914_1803915del GRCh38
NC_000004.11:g.1805641_1805642del , CM000666.1:g.1805641_1805642del GRCh37
NC_000004.10:g.1775439_1775440del NCBI36
NG_012632.1:g.15603_15604del , LRG_1021:g.15603_15604del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1082-416_1082-415del ENSP00000339824.4:n.1082-416_1082-415del
ENST00000260795.8:c.*131+78_*131+79del ENSP00000260795.3:n.*131+78_*131+79del
ENST00000352904.6:c.931-910_931-909del ENSP00000231803.1:n.931-910_931-909del
ENST00000412135.7:c.1063+78_1063+79del ENSP00000412903.3:n.1063+78_1063+79del
ENST00000440486.8:c.1075+78_1075+79del MANE Select ENSP00000414914.2:n.1075+78_1075+79del
ENST00000481110.7:c.1075+78_1075+79del ENSP00000420533.2:n.1075+78_1075+79del
ENST00000643463.1:n.227-416_227-415del
ENST00000260795.6:c.1075+78_1075+79del ENSP00000260795.2:n.1075+78_1075+79del
ENST00000340107.8:c.1082-416_1082-415del ENSP00000339824.4:n.1082-416_1082-415del
ENST00000352904.5:c.931-910_931-909del ENSP00000231803.1:n.931-910_931-909del
ENST00000412135.6:c.931-910_931-909del ENSP00000412903.2:n.931-910_931-909del
ENST00000440486.6:c.1075+78_1075+79del ENSP00000414914.2:n.1075+78_1075+79del
ENST00000481110.6:c.1075+78_1075+79del ENSP00000420533.2:n.1075+78_1075+79del
ENST00000613647.4:c.*131+78_*131+79del ENSP00000479472.1:n.*131+78_*131+79del
NM_000142.4:c.1075+78_1075+79del , LRG_1021t1:c.1075+78_1075+79del NP_000133.1:n.1075+78_1075+79del
NM_001163213.1:c.1082-416_1082-415del , LRG_1021t2:c.1082-416_1082-415del NP_001156685.1:n.1082-416_1082-415del
NM_022965.3:c.931-910_931-909del NP_075254.1:n.931-910_931-909del
XM_006713868.1:c.1082-416_1082-415del XP_006713931.1:n.1082-416_1082-415del
XM_006713869.1:c.1082-416_1082-415del XP_006713932.1:n.1082-416_1082-415del
XM_006713870.1:c.1082-416_1082-415del XP_006713933.1:n.1082-416_1082-415del
XM_006713871.1:c.1082-416_1082-415del XP_006713934.1:n.1082-416_1082-415del
XM_006713872.1:c.1075+78_1075+79del XP_006713935.1:n.1075+78_1075+79del
XM_006713873.1:c.1075+78_1075+79del XP_006713936.1:n.1075+78_1075+79del
XM_011513420.1:c.1075+78_1075+79del XP_011511722.1:n.1075+78_1075+79del
XM_011513422.1:c.1075+78_1075+79del XP_011511724.1:n.1075+78_1075+79del
NM_001354809.1:c.1075+78_1075+79del NP_001341738.1:n.1075+78_1075+79del
NM_001354810.1:c.1075+78_1075+79del NP_001341739.1:n.1075+78_1075+79del
NR_148971.1:n.1482+78_1482+79del
NM_001354809.2:c.1075+78_1075+79del NP_001341738.1:n.1075+78_1075+79del
NM_001354810.2:c.1075+78_1075+79del NP_001341739.1:n.1075+78_1075+79del
NR_148971.2:n.1501+78_1501+79del
NM_000142.5:c.1075+78_1075+79del MANE Select NP_000133.1:n.1075+78_1075+79del
NM_001163213.2:c.1082-416_1082-415del NP_001156685.1:n.1082-416_1082-415del
NM_022965.4:c.931-910_931-909del NP_075254.1:n.931-910_931-909del