Canonical Allele Identifier: CA2810498

Gene: FGFR3

Linked Data

• dbSNP Id: rs762694579
• ExAC: 4:1807407 TAGC / T
• gnomAD v2: 4-1807407-TAGC-T
• gnomAD v4: 4-1805680-TAGC-T
• MyVariant Identifiers: chr4:g.1807408_1807410del (hg19) ; chr4:g.1805681_1805683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805681_1805683del , CM000666.2:g.1805681_1805683del	GRCh38
NC_000004.11:g.1807408_1807410del , CM000666.1:g.1807408_1807410del	GRCh37
NC_000004.10:g.1777206_1777208del	NCBI36
NG_012632.1:g.17370_17372del , LRG_1021:g.17370_17372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1651+12_1651+14del	ENSP00000339824.4:n.1651+12_1651+14del
ENST00000260795.8:c.*701+12_*701+14del	ENSP00000260795.3:n.*701+12_*701+14del
ENST00000352904.6:c.1309+12_1309+14del	ENSP00000231803.1:n.1309+12_1309+14del
ENST00000412135.7:c.1633+12_1633+14del	ENSP00000412903.3:n.1633+12_1633+14del
ENST00000440486.8:c.1645+12_1645+14del MANE Select	ENSP00000414914.2:n.1645+12_1645+14del
ENST00000481110.7:c.1648+12_1648+14del	ENSP00000420533.2:n.1648+12_1648+14del
ENST00000260795.6:c.1645+12_1645+14del	ENSP00000260795.2:n.1645+12_1645+14del
ENST00000340107.8:c.1651+12_1651+14del	ENSP00000339824.4:n.1651+12_1651+14del
ENST00000352904.5:c.1309+12_1309+14del	ENSP00000231803.1:n.1309+12_1309+14del
ENST00000412135.6:c.1309+12_1309+14del	ENSP00000412903.2:n.1309+12_1309+14del
ENST00000440486.6:c.1645+12_1645+14del	ENSP00000414914.2:n.1645+12_1645+14del
ENST00000469068.1:n.711+12_711+14del
ENST00000481110.6:c.1648+12_1648+14del	ENSP00000420533.2:n.1648+12_1648+14del
ENST00000613647.4:c.*701+12_*701+14del	ENSP00000479472.1:n.*701+12_*701+14del
NM_000142.4:c.1645+12_1645+14del , LRG_1021t1:c.1645+12_1645+14del	NP_000133.1:n.1645+12_1645+14del
NM_001163213.1:c.1651+12_1651+14del , LRG_1021t2:c.1651+12_1651+14del	NP_001156685.1:n.1651+12_1651+14del
NM_022965.3:c.1309+12_1309+14del	NP_075254.1:n.1309+12_1309+14del
XM_006713868.1:c.1657+12_1657+14del	XP_006713931.1:n.1657+12_1657+14del
XM_006713869.1:c.1657+12_1657+14del	XP_006713932.1:n.1657+12_1657+14del
XM_006713870.1:c.1654+12_1654+14del	XP_006713933.1:n.1654+12_1654+14del
XM_006713871.1:c.1651+12_1651+14del	XP_006713934.1:n.1651+12_1651+14del
XM_006713872.1:c.1648+12_1648+14del	XP_006713935.1:n.1648+12_1648+14del
XM_006713873.1:c.1645+12_1645+14del	XP_006713936.1:n.1645+12_1645+14del
XM_011513420.1:c.1651+12_1651+14del	XP_011511722.1:n.1651+12_1651+14del
XM_011513422.1:c.1648+12_1648+14del	XP_011511724.1:n.1648+12_1648+14del
NM_001354809.1:c.1648+12_1648+14del	NP_001341738.1:n.1648+12_1648+14del
NM_001354810.1:c.1648+12_1648+14del	NP_001341739.1:n.1648+12_1648+14del
NR_148971.1:n.2052+12_2052+14del
NM_001354809.2:c.1648+12_1648+14del	NP_001341738.1:n.1648+12_1648+14del
NM_001354810.2:c.1648+12_1648+14del	NP_001341739.1:n.1648+12_1648+14del
NR_148971.2:n.2071+12_2071+14del
NM_000142.5:c.1645+12_1645+14del MANE Select	NP_000133.1:n.1645+12_1645+14del
NM_001163213.2:c.1651+12_1651+14del	NP_001156685.1:n.1651+12_1651+14del
NM_022965.4:c.1309+12_1309+14del	NP_075254.1:n.1309+12_1309+14del