Canonical Allele Identifier: CA2810423

Gene: FGFR3

Linked Data

• ExAC: 4:1807201 AAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCTGACACAGGCCCCCCGCTCCGTGCAC / A
• gnomAD v2: 4-1807201-AAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCTGACACAGGCCCCCCGCTCCGTGCAC-A
• gnomAD v4: 4-1805474-AAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGGCTGGGGGCGCCGCCGCCGCCTGACACAGGCCCCCCGCTCCGTGCAC-A
• MyVariant Identifiers: chr4:g.1807202_1807283del (hg19) ; chr4:g.1805475_1805556del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805477_1805558del , CM000666.2:g.1805477_1805558del	GRCh38
NC_000004.11:g.1807204_1807285del , CM000666.1:g.1807204_1807285del	GRCh37
NC_000004.10:g.1777002_1777083del	NCBI36
NG_012632.1:g.17166_17247del , LRG_1021:g.17166_17247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1540+1_1541-1del
ENST00000260795.8:c.*590+1_*591-1del
ENST00000352904.6:c.1198+1_1199-1del
ENST00000412135.7:c.1522+1_1523-1del
ENST00000440486.8:c.1534+1_1535-1del
ENST00000481110.7:c.1537+1_1538-1del
ENST00000260795.6:c.1534+1_1535-1del
ENST00000340107.8:c.1540+1_1541-1del
ENST00000352904.5:c.1198+1_1199-1del
ENST00000412135.6:c.1198+1_1199-1del
ENST00000440486.6:c.1534+1_1535-1del
ENST00000469068.1:n.600+1_601-1del
ENST00000481110.6:c.1537+1_1538-1del
ENST00000613647.4:c.*590+1_*591-1del
NM_000142.4:c.1534+1_1535-1del , LRG_1021t1:c.1534+1_1535-1del
NM_001163213.1:c.1540+1_1541-1del , LRG_1021t2:c.1540+1_1541-1del
NM_022965.3:c.1198+1_1199-1del
XM_006713868.1:c.1546+1_1547-1del
XM_006713869.1:c.1546+1_1547-1del
XM_006713870.1:c.1543+1_1544-1del
XM_006713871.1:c.1540+1_1541-1del
XM_006713872.1:c.1537+1_1538-1del
XM_006713873.1:c.1534+1_1535-1del
XM_011513420.1:c.1540+1_1541-1del
XM_011513422.1:c.1537+1_1538-1del
NM_001354809.1:c.1537+1_1538-1del
NM_001354810.1:c.1537+1_1538-1del
NR_148971.1:n.1941+1_1942-1del
NM_001354809.2:c.1537+1_1538-1del
NM_001354810.2:c.1537+1_1538-1del
NR_148971.2:n.1960+1_1961-1del
NM_000142.5:c.1534+1_1535-1del
NM_001163213.2:c.1540+1_1541-1del
NM_022965.4:c.1198+1_1199-1del