Canonical Allele Identifier: CA2578018332
Gene: FGFR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1804355_1804357del , CM000666.2:g.1804355_1804357del GRCh38
NC_000004.11:g.1806082_1806084del , CM000666.1:g.1806082_1806084del GRCh37
NC_000004.10:g.1775880_1775882del NCBI36
NG_012632.1:g.16044_16046del , LRG_1021:g.16044_16046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1107_1109del ENSP00000339824.4:p.Asp369del
ENST00000260795.8:c.*157_*159del ENSP00000260795.3:n.*157_*159del
ENST00000352904.6:c.931-469_931-467del ENSP00000231803.1:n.931-469_931-467del
ENST00000412135.7:c.1089_1091del ENSP00000412903.3:p.Asp363del
ENST00000440486.8:c.1101_1103del MANE Select ENSP00000414914.2:p.Asp367del
ENST00000481110.7:c.1101_1103del ENSP00000420533.2:p.Asp367del
ENST00000643463.1:n.252_254del
ENST00000260795.6:c.1101_1103del ENSP00000260795.2:p.Asp367del
ENST00000340107.8:c.1107_1109del ENSP00000339824.4:p.Asp369del
ENST00000352904.5:c.931-469_931-467del ENSP00000231803.1:n.931-469_931-467del
ENST00000412135.6:c.931-469_931-467del ENSP00000412903.2:n.931-469_931-467del
ENST00000440486.6:c.1101_1103del ENSP00000414914.2:p.Asp367del
ENST00000481110.6:c.1101_1103del ENSP00000420533.2:p.Asp367del
ENST00000613647.4:c.*157_*159del ENSP00000479472.1:n.*157_*159del
NM_000142.4:c.1101_1103del , LRG_1021t1:c.1101_1103del NP_000133.1:p.Asp367del
NM_001163213.1:c.1107_1109del , LRG_1021t2:c.1107_1109del NP_001156685.1:p.Asp369del
NM_022965.3:c.931-469_931-467del NP_075254.1:n.931-469_931-467del
XM_006713868.1:c.1107_1109del XP_006713931.1:p.Asp369del
XM_006713869.1:c.1107_1109del XP_006713932.1:p.Asp369del
XM_006713870.1:c.1107_1109del XP_006713933.1:p.Asp369del
XM_006713871.1:c.1107_1109del XP_006713934.1:p.Asp369del
XM_006713872.1:c.1101_1103del XP_006713935.1:p.Asp367del
XM_006713873.1:c.1101_1103del XP_006713936.1:p.Asp367del
XM_011513420.1:c.1101_1103del XP_011511722.1:p.Asp367del
XM_011513422.1:c.1101_1103del XP_011511724.1:p.Asp367del
NM_001354809.1:c.1101_1103del NP_001341738.1:p.Asp367del
NM_001354810.1:c.1101_1103del NP_001341739.1:p.Asp367del
NR_148971.1:n.1508_1510del
NM_001354809.2:c.1101_1103del NP_001341738.1:p.Asp367del
NM_001354810.2:c.1101_1103del NP_001341739.1:p.Asp367del
NR_148971.2:n.1527_1529del
NM_000142.5:c.1101_1103del MANE Select NP_000133.1:p.Asp367del
NM_001163213.2:c.1107_1109del NP_001156685.1:p.Asp369del
NM_022965.4:c.931-469_931-467del NP_075254.1:n.931-469_931-467del