Canonical Allele Identifier: CA2669563798

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 3047089
• ClinVar RCV Id: RCV004542441
• gnomAD v4: 4-1803684-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1803686_1803687del , CM000666.2:g.1803686_1803687del	GRCh38
NC_000004.11:g.1805413_1805414del , CM000666.1:g.1805413_1805414del	GRCh37
NC_000004.10:g.1775211_1775212del	NCBI36
NG_012632.1:g.15375_15376del , LRG_1021:g.15375_15376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1081+622_1081+623del	ENSP00000339824.4:n.1081+622_1081+623del
ENST00000260795.8:c.1082-6_1082-5del	ENSP00000260795.3:n.1082-6_1082-5del
ENST00000352904.6:c.931-1138_931-1137del	ENSP00000231803.1:n.931-1138_931-1137del
ENST00000412135.7:c.919-6_919-5del	ENSP00000412903.3:n.919-6_919-5del
ENST00000440486.8:c.931-6_931-5del MANE Select	ENSP00000414914.2:n.931-6_931-5del
ENST00000481110.7:c.931-6_931-5del	ENSP00000420533.2:n.931-6_931-5del
ENST00000643463.1:n.226+622_226+623del
ENST00000260795.6:c.931-6_931-5del	ENSP00000260795.2:n.931-6_931-5del
ENST00000340107.8:c.1081+622_1081+623del	ENSP00000339824.4:n.1081+622_1081+623del
ENST00000352904.5:c.931-1138_931-1137del	ENSP00000231803.1:n.931-1138_931-1137del
ENST00000412135.6:c.931-1138_931-1137del	ENSP00000412903.2:n.931-1138_931-1137del
ENST00000440486.6:c.931-6_931-5del	ENSP00000414914.2:n.931-6_931-5del
ENST00000481110.6:c.931-6_931-5del	ENSP00000420533.2:n.931-6_931-5del
ENST00000507588.1:c.289-6_289-5del	ENSP00000427289.1:n.289-6_289-5del
ENST00000613647.4:c.1082-6_1082-5del	ENSP00000479472.1:n.1082-6_1082-5del
NM_000142.4:c.931-6_931-5del , LRG_1021t1:c.931-6_931-5del	NP_000133.1:n.931-6_931-5del
NM_001163213.1:c.1081+622_1081+623del , LRG_1021t2:c.1081+622_1081+623del	NP_001156685.1:n.1081+622_1081+623del
NM_022965.3:c.931-1138_931-1137del	NP_075254.1:n.931-1138_931-1137del
XM_006713868.1:c.1081+622_1081+623del	XP_006713931.1:n.1081+622_1081+623del
XM_006713869.1:c.1081+622_1081+623del	XP_006713932.1:n.1081+622_1081+623del
XM_006713870.1:c.1081+622_1081+623del	XP_006713933.1:n.1081+622_1081+623del
XM_006713871.1:c.1081+622_1081+623del	XP_006713934.1:n.1081+622_1081+623del
XM_006713872.1:c.931-6_931-5del	XP_006713935.1:n.931-6_931-5del
XM_006713873.1:c.931-6_931-5del	XP_006713936.1:n.931-6_931-5del
XM_011513420.1:c.931-6_931-5del	XP_011511722.1:n.931-6_931-5del
XM_011513422.1:c.931-6_931-5del	XP_011511724.1:n.931-6_931-5del
NM_001354809.1:c.931-6_931-5del	NP_001341738.1:n.931-6_931-5del
NM_001354810.1:c.931-6_931-5del	NP_001341739.1:n.931-6_931-5del
NR_148971.1:n.1338-6_1338-5del
NM_001354809.2:c.931-6_931-5del	NP_001341738.1:n.931-6_931-5del
NM_001354810.2:c.931-6_931-5del	NP_001341739.1:n.931-6_931-5del
NR_148971.2:n.1357-6_1357-5del
NM_000142.5:c.931-6_931-5del MANE Select	NP_000133.1:n.931-6_931-5del
NM_001163213.2:c.1081+622_1081+623del	NP_001156685.1:n.1081+622_1081+623del
NM_022965.4:c.931-1138_931-1137del	NP_075254.1:n.931-1138_931-1137del