Canonical Allele Identifier: CA2810589

Gene: FGFR3

Linked Data

• ExAC: 4:1807665 AAGGTGGGCAGGGCGGCAGGTGTGGGTGGAGTAGGCTGGGCCCTGCCCTGAGATGCTGGGAGCAGCGGGGAGAGGTGGAGAGGCTTCAGCCCTGCCTCCCACCCCTTCCCC / A
• gnomAD v2: 4-1807665-AAGGTGGGCAGGGCGGCAGGTGTGGGTGGAGTAGGCTGGGCCCTGCCCTGAGATGCTGGGAGCAGCGGGGAGAGGTGGAGAGGCTTCAGCCCTGCCTCCCACCCCTTCCCC-A
• gnomAD v4: 4-1805938-AAGGTGGGCAGGGCGGCAGGTGTGGGTGGAGTAGGCTGGGCCCTGCCCTGAGATGCTGGGAGCAGCGGGGAGAGGTGGAGAGGCTTCAGCCCTGCCTCCCACCCCTTCCCC-A
• MyVariant Identifiers: chr4:g.1807666_1807775del (hg19) ; chr4:g.1805939_1806048del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805941_1806050del , CM000666.2:g.1805941_1806050del	GRCh38
NC_000004.11:g.1807668_1807777del , CM000666.1:g.1807668_1807777del	GRCh37
NC_000004.10:g.1777466_1777575del	NCBI36
NG_012632.1:g.17630_17739del , LRG_1021:g.17630_17739del

Transcript Alleles

HGVS	Amino-acid change
ENST00000340107.9:c.1842+1_1843-1del
ENST00000260795.8:c.*892+1_*893-1del
ENST00000352904.6:c.1500+1_1501-1del
ENST00000412135.7:c.1824+1_1825-1del
ENST00000440486.8:c.1836+1_1837-1del
ENST00000481110.7:c.1839+1_1840-1del
ENST00000260795.6:c.1836+1_1837-1del
ENST00000340107.8:c.1842+1_1843-1del
ENST00000352904.5:c.1500+1_1501-1del
ENST00000412135.6:c.1500+1_1501-1del
ENST00000440486.6:c.1836+1_1837-1del
ENST00000481110.6:c.1839+1_1840-1del
ENST00000613647.4:c.*892+1_*893-1del
NM_000142.4:c.1836+1_1837-1del , LRG_1021t1:c.1836+1_1837-1del
NM_001163213.1:c.1842+1_1843-1del , LRG_1021t2:c.1842+1_1843-1del
NM_022965.3:c.1500+1_1501-1del
XM_006713868.1:c.1848+1_1849-1del
XM_006713869.1:c.1848+1_1849-1del
XM_006713870.1:c.1845+1_1846-1del
XM_006713871.1:c.1842+1_1843-1del
XM_006713872.1:c.1839+1_1840-1del
XM_006713873.1:c.1836+1_1837-1del
XM_011513420.1:c.1842+1_1843-1del
XM_011513422.1:c.1839+1_1840-1del
NM_001354809.1:c.1839+1_1840-1del
NM_001354810.1:c.1839+1_1840-1del
NR_148971.1:n.2243+1_2244-1del
NM_001354809.2:c.1839+1_1840-1del
NM_001354810.2:c.1839+1_1840-1del
NR_148971.2:n.2262+1_2263-1del
NM_000142.5:c.1836+1_1837-1del
NM_001163213.2:c.1842+1_1843-1del
NM_022965.4:c.1500+1_1501-1del