Canonical Allele Identifier: CA2704953414
Gene: FGFR3 HGNC NCBI

Linked Data

dbSNP Id: rs2108806661

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1806087del , CM000666.2:g.1806087del GRCh38
NC_000004.11:g.1807814del , CM000666.1:g.1807814del GRCh37
NC_000004.10:g.1777612del NCBI36
NG_012632.1:g.17776del , LRG_1021:g.17776del

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1879del ENSP00000339824.4:p.Val627Ter
ENST00000260795.8:c.*929del ENSP00000260795.3:n.*929del
ENST00000352904.6:c.1537del ENSP00000231803.1:p.Val513Ter
ENST00000412135.7:c.1861del ENSP00000412903.3:p.Val621Ter
ENST00000440486.8:c.1873del MANE Select ENSP00000414914.2:p.Val625Ter
ENST00000481110.7:c.1876del ENSP00000420533.2:p.Val626Ter
ENST00000260795.6:c.1873del ENSP00000260795.2:p.Val625Ter
ENST00000340107.8:c.1879del ENSP00000339824.4:p.Val627Ter
ENST00000352904.5:c.1537del ENSP00000231803.1:p.Val513Ter
ENST00000412135.6:c.1537del ENSP00000412903.2:p.Val513Ter
ENST00000440486.6:c.1873del ENSP00000414914.2:p.Val625Ter
ENST00000481110.6:c.1876del ENSP00000420533.2:p.Val626Ter
ENST00000613647.4:c.*929del ENSP00000479472.1:n.*929del
NM_000142.4:c.1873del , LRG_1021t1:c.1873del NP_000133.1:p.Val625Ter
NM_001163213.1:c.1879del , LRG_1021t2:c.1879del NP_001156685.1:p.Val627Ter
NM_022965.3:c.1537del NP_075254.1:p.Val513Ter
XM_006713868.1:c.1885del XP_006713931.1:p.Val629Ter
XM_006713869.1:c.1885del XP_006713932.1:p.Val629Ter
XM_006713870.1:c.1882del XP_006713933.1:p.Val628Ter
XM_006713871.1:c.1879del XP_006713934.1:p.Val627Ter
XM_006713872.1:c.1876del XP_006713935.1:p.Val626Ter
XM_006713873.1:c.1873del XP_006713936.1:p.Val625Ter
XM_011513420.1:c.1879del XP_011511722.1:p.Val627Ter
XM_011513422.1:c.1876del XP_011511724.1:p.Val626Ter
NM_001354809.1:c.1876del NP_001341738.1:p.Val626Ter
NM_001354810.1:c.1876del NP_001341739.1:p.Val626Ter
NR_148971.1:n.2280del
NM_001354809.2:c.1876del NP_001341738.1:p.Val626Ter
NM_001354810.2:c.1876del NP_001341739.1:p.Val626Ter
NR_148971.2:n.2299del
NM_000142.5:c.1873del MANE Select NP_000133.1:p.Val625Ter
NM_001163213.2:c.1879del NP_001156685.1:p.Val627Ter
NM_022965.4:c.1537del NP_075254.1:p.Val513Ter