Canonical Allele Identifier: CA355981151

Gene: FGFR3

Linked Data

• dbSNP Id: rs1256797500
• gnomAD v2: 4-1807159-ACCGGG-A
• MyVariant Identifiers: chr4:g.1807160_1807164del (hg19) ; chr4:g.1805434_1805438del (hg38) ; chr4:g.1805433_1805437del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805436_1805440del , CM000666.2:g.1805436_1805440del	GRCh38
NC_000004.11:g.1807163_1807167del , CM000666.1:g.1807163_1807167del	GRCh37
NC_000004.10:g.1776961_1776965del	NCBI36
NG_012632.1:g.17125_17129del , LRG_1021:g.17125_17129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1500_1504del	ENSP00000339824.4:p.Ala501GlnfsTer16
ENST00000260795.8:c.*550_*554del	ENSP00000260795.3:n.*550_*554del
ENST00000352904.6:c.1158_1162del	ENSP00000231803.1:p.Ala387GlnfsTer16
ENST00000412135.7:c.1482_1486del	ENSP00000412903.3:p.Ala495GlnfsTer16
ENST00000440486.8:c.1494_1498del MANE Select	ENSP00000414914.2:p.Ala499GlnfsTer16
ENST00000481110.7:c.1497_1501del	ENSP00000420533.2:p.Ala500GlnfsTer16
ENST00000260795.6:c.1494_1498del	ENSP00000260795.2:p.Ala499GlnfsTer16
ENST00000340107.8:c.1500_1504del	ENSP00000339824.4:p.Ala501GlnfsTer16
ENST00000352904.5:c.1158_1162del	ENSP00000231803.1:p.Ala387GlnfsTer16
ENST00000412135.6:c.1158_1162del	ENSP00000412903.2:p.Ala387GlnfsTer16
ENST00000440486.6:c.1494_1498del	ENSP00000414914.2:p.Ala499GlnfsTer16
ENST00000469068.1:n.560_564del
ENST00000481110.6:c.1497_1501del	ENSP00000420533.2:p.Ala500GlnfsTer16
ENST00000613647.4:c.*550_*554del	ENSP00000479472.1:n.*550_*554del
NM_000142.4:c.1494_1498del , LRG_1021t1:c.1494_1498del	NP_000133.1:p.Ala499GlnfsTer16
NM_001163213.1:c.1500_1504del , LRG_1021t2:c.1500_1504del	NP_001156685.1:p.Ala501GlnfsTer16
NM_022965.3:c.1158_1162del	NP_075254.1:p.Ala387GlnfsTer16
XM_006713868.1:c.1506_1510del	XP_006713931.1:p.Ala503GlnfsTer16
XM_006713869.1:c.1506_1510del	XP_006713932.1:p.Ala503GlnfsTer16
XM_006713870.1:c.1503_1507del	XP_006713933.1:p.Ala502GlnfsTer16
XM_006713871.1:c.1500_1504del	XP_006713934.1:p.Ala501GlnfsTer16
XM_006713872.1:c.1497_1501del	XP_006713935.1:p.Ala500GlnfsTer16
XM_006713873.1:c.1494_1498del	XP_006713936.1:p.Ala499GlnfsTer16
XM_011513420.1:c.1500_1504del	XP_011511722.1:p.Ala501GlnfsTer16
XM_011513422.1:c.1497_1501del	XP_011511724.1:p.Ala500GlnfsTer16
NM_001354809.1:c.1497_1501del	NP_001341738.1:p.Ala500GlnfsTer16
NM_001354810.1:c.1497_1501del	NP_001341739.1:p.Ala500GlnfsTer16
NR_148971.1:n.1901_1905del
NM_001354809.2:c.1497_1501del	NP_001341738.1:p.Ala500GlnfsTer16
NM_001354810.2:c.1497_1501del	NP_001341739.1:p.Ala500GlnfsTer16
NR_148971.2:n.1920_1924del
NM_000142.5:c.1494_1498del MANE Select	NP_000133.1:p.Ala499GlnfsTer16
NM_001163213.2:c.1500_1504del	NP_001156685.1:p.Ala501GlnfsTer16
NM_022965.4:c.1158_1162del	NP_075254.1:p.Ala387GlnfsTer16