Canonical Allele Identifier: CA2979275485
Gene: FGFR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1804348_1804350del , CM000666.2:g.1804348_1804350del GRCh38
NC_000004.11:g.1806075_1806077del , CM000666.1:g.1806075_1806077del GRCh37
NC_000004.10:g.1775873_1775875del NCBI36
NG_012632.1:g.16037_16039del , LRG_1021:g.16037_16039del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1100_1102del ENSP00000339824.4:p.Glu367del
ENST00000260795.8:c.*150_*152del ENSP00000260795.3:n.*150_*152del
ENST00000352904.6:c.931-476_931-474del ENSP00000231803.1:n.931-476_931-474del
ENST00000412135.7:c.1082_1084del ENSP00000412903.3:p.Glu361del
ENST00000440486.8:c.1094_1096del MANE Select ENSP00000414914.2:p.Glu365del
ENST00000481110.7:c.1094_1096del ENSP00000420533.2:p.Glu365del
ENST00000643463.1:n.245_247del
ENST00000260795.6:c.1094_1096del ENSP00000260795.2:p.Glu365del
ENST00000340107.8:c.1100_1102del ENSP00000339824.4:p.Glu367del
ENST00000352904.5:c.931-476_931-474del ENSP00000231803.1:n.931-476_931-474del
ENST00000412135.6:c.931-476_931-474del ENSP00000412903.2:n.931-476_931-474del
ENST00000440486.6:c.1094_1096del ENSP00000414914.2:p.Glu365del
ENST00000481110.6:c.1094_1096del ENSP00000420533.2:p.Glu365del
ENST00000613647.4:c.*150_*152del ENSP00000479472.1:n.*150_*152del
NM_000142.4:c.1094_1096del , LRG_1021t1:c.1094_1096del NP_000133.1:p.Glu365del
NM_001163213.1:c.1100_1102del , LRG_1021t2:c.1100_1102del NP_001156685.1:p.Glu367del
NM_022965.3:c.931-476_931-474del NP_075254.1:n.931-476_931-474del
XM_006713868.1:c.1100_1102del XP_006713931.1:p.Glu367del
XM_006713869.1:c.1100_1102del XP_006713932.1:p.Glu367del
XM_006713870.1:c.1100_1102del XP_006713933.1:p.Glu367del
XM_006713871.1:c.1100_1102del XP_006713934.1:p.Glu367del
XM_006713872.1:c.1094_1096del XP_006713935.1:p.Glu365del
XM_006713873.1:c.1094_1096del XP_006713936.1:p.Glu365del
XM_011513420.1:c.1094_1096del XP_011511722.1:p.Glu365del
XM_011513422.1:c.1094_1096del XP_011511724.1:p.Glu365del
NM_001354809.1:c.1094_1096del NP_001341738.1:p.Glu365del
NM_001354810.1:c.1094_1096del NP_001341739.1:p.Glu365del
NR_148971.1:n.1501_1503del
NM_001354809.2:c.1094_1096del NP_001341738.1:p.Glu365del
NM_001354810.2:c.1094_1096del NP_001341739.1:p.Glu365del
NR_148971.2:n.1520_1522del
NM_000142.5:c.1094_1096del MANE Select NP_000133.1:p.Glu365del
NM_001163213.2:c.1100_1102del NP_001156685.1:p.Glu367del
NM_022965.4:c.931-476_931-474del NP_075254.1:n.931-476_931-474del