Canonical Allele Identifier: CA2697557053

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 2699276
• ClinVar RCV Id: RCV003544543

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805881_1805882delinsTG , CM000666.2:g.1805881_1805882delinsTG	GRCh38
NC_000004.11:g.1807608_1807609delinsTG , CM000666.1:g.1807608_1807609delinsTG	GRCh37
NC_000004.10:g.1777406_1777407delinsTG	NCBI36
NG_012632.1:g.17570_17571delinsTG , LRG_1021:g.17570_17571delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1783_1784delinsTG	ENSP00000339824.4:p.Asp595Cys
ENST00000260795.8:c.*833_*834delinsTG	ENSP00000260795.3:n.*833_*834delinsTG
ENST00000352904.6:c.1441_1442delinsTG	ENSP00000231803.1:p.Asp481Cys
ENST00000412135.7:c.1765_1766delinsTG	ENSP00000412903.3:p.Asp589Cys
ENST00000440486.8:c.1777_1778delinsTG MANE Select	ENSP00000414914.2:p.Asp593Cys
ENST00000481110.7:c.1780_1781delinsTG	ENSP00000420533.2:p.Asp594Cys
ENST00000260795.6:c.1777_1778delinsTG	ENSP00000260795.2:p.Asp593Cys
ENST00000340107.8:c.1783_1784delinsTG	ENSP00000339824.4:p.Asp595Cys
ENST00000352904.5:c.1441_1442delinsTG	ENSP00000231803.1:p.Asp481Cys
ENST00000412135.6:c.1441_1442delinsTG	ENSP00000412903.2:p.Asp481Cys
ENST00000440486.6:c.1777_1778delinsTG	ENSP00000414914.2:p.Asp593Cys
ENST00000481110.6:c.1780_1781delinsTG	ENSP00000420533.2:p.Asp594Cys
ENST00000613647.4:c.*833_*834delinsTG	ENSP00000479472.1:n.*833_*834delinsTG
NM_000142.4:c.1777_1778delinsTG , LRG_1021t1:c.1777_1778delinsTG	NP_000133.1:p.Asp593Cys
NM_001163213.1:c.1783_1784delinsTG , LRG_1021t2:c.1783_1784delinsTG	NP_001156685.1:p.Asp595Cys
NM_022965.3:c.1441_1442delinsTG	NP_075254.1:p.Asp481Cys
XM_006713868.1:c.1789_1790delinsTG	XP_006713931.1:p.Asp597Cys
XM_006713869.1:c.1789_1790delinsTG	XP_006713932.1:p.Asp597Cys
XM_006713870.1:c.1786_1787delinsTG	XP_006713933.1:p.Asp596Cys
XM_006713871.1:c.1783_1784delinsTG	XP_006713934.1:p.Asp595Cys
XM_006713872.1:c.1780_1781delinsTG	XP_006713935.1:p.Asp594Cys
XM_006713873.1:c.1777_1778delinsTG	XP_006713936.1:p.Asp593Cys
XM_011513420.1:c.1783_1784delinsTG	XP_011511722.1:p.Asp595Cys
XM_011513422.1:c.1780_1781delinsTG	XP_011511724.1:p.Asp594Cys
NM_001354809.1:c.1780_1781delinsTG	NP_001341738.1:p.Asp594Cys
NM_001354810.1:c.1780_1781delinsTG	NP_001341739.1:p.Asp594Cys
NR_148971.1:n.2184_2185delinsTG
NM_001354809.2:c.1780_1781delinsTG	NP_001341738.1:p.Asp594Cys
NM_001354810.2:c.1780_1781delinsTG	NP_001341739.1:p.Asp594Cys
NR_148971.2:n.2203_2204delinsTG
NM_000142.5:c.1777_1778delinsTG MANE Select	NP_000133.1:p.Asp593Cys
NM_001163213.2:c.1783_1784delinsTG	NP_001156685.1:p.Asp595Cys
NM_022965.4:c.1441_1442delinsTG	NP_075254.1:p.Asp481Cys