Canonical Allele Identifier: CA1058514241
Gene: FGFR3 HGNC NCBI

Linked Data

dbSNP Id: rs1721540810
gnomAD v3: 4-1804020-G-GA
gnomAD v4: 4-1804020-G-GA

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1804020_1804021insA , CM000666.2:g.1804020_1804021insA GRCh38
NC_000004.11:g.1805747_1805748insA , CM000666.1:g.1805747_1805748insA GRCh37
NC_000004.10:g.1775545_1775546insA NCBI36
NG_012632.1:g.15709_15710insA , LRG_1021:g.15709_15710insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1082-310_1082-309insA ENSP00000339824.4:n.1082-310_1082-309insA
ENST00000260795.8:c.*131+184_*131+185insA ENSP00000260795.3:n.*131+184_*131+185insA
ENST00000352904.6:c.931-804_931-803insA ENSP00000231803.1:n.931-804_931-803insA
ENST00000412135.7:c.1063+184_1063+185insA ENSP00000412903.3:n.1063+184_1063+185insA
ENST00000440486.8:c.1075+184_1075+185insA MANE Select ENSP00000414914.2:n.1075+184_1075+185insA
ENST00000481110.7:c.1075+184_1075+185insA ENSP00000420533.2:n.1075+184_1075+185insA
ENST00000643463.1:n.227-310_227-309insA
ENST00000260795.6:c.1075+184_1075+185insA ENSP00000260795.2:n.1075+184_1075+185insA
ENST00000340107.8:c.1082-310_1082-309insA ENSP00000339824.4:n.1082-310_1082-309insA
ENST00000352904.5:c.931-804_931-803insA ENSP00000231803.1:n.931-804_931-803insA
ENST00000412135.6:c.931-804_931-803insA ENSP00000412903.2:n.931-804_931-803insA
ENST00000440486.6:c.1075+184_1075+185insA ENSP00000414914.2:n.1075+184_1075+185insA
ENST00000481110.6:c.1075+184_1075+185insA ENSP00000420533.2:n.1075+184_1075+185insA
ENST00000613647.4:c.*131+184_*131+185insA ENSP00000479472.1:n.*131+184_*131+185insA
NM_000142.4:c.1075+184_1075+185insA , LRG_1021t1:c.1075+184_1075+185insA NP_000133.1:n.1075+184_1075+185insA
NM_001163213.1:c.1082-310_1082-309insA , LRG_1021t2:c.1082-310_1082-309insA NP_001156685.1:n.1082-310_1082-309insA
NM_022965.3:c.931-804_931-803insA NP_075254.1:n.931-804_931-803insA
XM_006713868.1:c.1082-310_1082-309insA XP_006713931.1:n.1082-310_1082-309insA
XM_006713869.1:c.1082-310_1082-309insA XP_006713932.1:n.1082-310_1082-309insA
XM_006713870.1:c.1082-310_1082-309insA XP_006713933.1:n.1082-310_1082-309insA
XM_006713871.1:c.1082-310_1082-309insA XP_006713934.1:n.1082-310_1082-309insA
XM_006713872.1:c.1075+184_1075+185insA XP_006713935.1:n.1075+184_1075+185insA
XM_006713873.1:c.1075+184_1075+185insA XP_006713936.1:n.1075+184_1075+185insA
XM_011513420.1:c.1075+184_1075+185insA XP_011511722.1:n.1075+184_1075+185insA
XM_011513422.1:c.1075+184_1075+185insA XP_011511724.1:n.1075+184_1075+185insA
NM_001354809.1:c.1075+184_1075+185insA NP_001341738.1:n.1075+184_1075+185insA
NM_001354810.1:c.1075+184_1075+185insA NP_001341739.1:n.1075+184_1075+185insA
NR_148971.1:n.1482+184_1482+185insA
NM_001354809.2:c.1075+184_1075+185insA NP_001341738.1:n.1075+184_1075+185insA
NM_001354810.2:c.1075+184_1075+185insA NP_001341739.1:n.1075+184_1075+185insA
NR_148971.2:n.1501+184_1501+185insA
NM_000142.5:c.1075+184_1075+185insA MANE Select NP_000133.1:n.1075+184_1075+185insA
NM_001163213.2:c.1082-310_1082-309insA NP_001156685.1:n.1082-310_1082-309insA
NM_022965.4:c.931-804_931-803insA NP_075254.1:n.931-804_931-803insA