Canonical Allele Identifier: CA2669551991
Gene: FGFR3 HGNC NCBI

Linked Data

gnomAD v4: 4-1803931-CT-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1803933del , CM000666.2:g.1803933del GRCh38
NC_000004.11:g.1805660del , CM000666.1:g.1805660del GRCh37
NC_000004.10:g.1775458del NCBI36
NG_012632.1:g.15622del , LRG_1021:g.15622del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1082-397del ENSP00000339824.4:n.1082-397del
ENST00000260795.8:c.*131+97del ENSP00000260795.3:n.*131+97del
ENST00000352904.6:c.931-891del ENSP00000231803.1:n.931-891del
ENST00000412135.7:c.1063+97del ENSP00000412903.3:n.1063+97del
ENST00000440486.8:c.1075+97del MANE Select ENSP00000414914.2:n.1075+97del
ENST00000481110.7:c.1075+97del ENSP00000420533.2:n.1075+97del
ENST00000643463.1:n.227-397del
ENST00000260795.6:c.1075+97del ENSP00000260795.2:n.1075+97del
ENST00000340107.8:c.1082-397del ENSP00000339824.4:n.1082-397del
ENST00000352904.5:c.931-891del ENSP00000231803.1:n.931-891del
ENST00000412135.6:c.931-891del ENSP00000412903.2:n.931-891del
ENST00000440486.6:c.1075+97del ENSP00000414914.2:n.1075+97del
ENST00000481110.6:c.1075+97del ENSP00000420533.2:n.1075+97del
ENST00000613647.4:c.*131+97del ENSP00000479472.1:n.*131+97del
NM_000142.4:c.1075+97del , LRG_1021t1:c.1075+97del NP_000133.1:n.1075+97del
NM_001163213.1:c.1082-397del , LRG_1021t2:c.1082-397del NP_001156685.1:n.1082-397del
NM_022965.3:c.931-891del NP_075254.1:n.931-891del
XM_006713868.1:c.1082-397del XP_006713931.1:n.1082-397del
XM_006713869.1:c.1082-397del XP_006713932.1:n.1082-397del
XM_006713870.1:c.1082-397del XP_006713933.1:n.1082-397del
XM_006713871.1:c.1082-397del XP_006713934.1:n.1082-397del
XM_006713872.1:c.1075+97del XP_006713935.1:n.1075+97del
XM_006713873.1:c.1075+97del XP_006713936.1:n.1075+97del
XM_011513420.1:c.1075+97del XP_011511722.1:n.1075+97del
XM_011513422.1:c.1075+97del XP_011511724.1:n.1075+97del
NM_001354809.1:c.1075+97del NP_001341738.1:n.1075+97del
NM_001354810.1:c.1075+97del NP_001341739.1:n.1075+97del
NR_148971.1:n.1482+97del
NM_001354809.2:c.1075+97del NP_001341738.1:n.1075+97del
NM_001354810.2:c.1075+97del NP_001341739.1:n.1075+97del
NR_148971.2:n.1501+97del
NM_000142.5:c.1075+97del MANE Select NP_000133.1:n.1075+97del
NM_001163213.2:c.1082-397del NP_001156685.1:n.1082-397del
NM_022965.4:c.931-891del NP_075254.1:n.931-891del