Canonical Allele Identifier: CA791737043

Gene: FGFR3

Linked Data

• dbSNP Id: rs1189268403
• gnomAD v4: 4-1804614-CCT-C
• MyVariant Identifiers: chr4:g.1806342_1806343del (hg19) ; chr4:g.1804615_1804616del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1804619_1804620del , CM000666.2:g.1804619_1804620del	GRCh38
NC_000004.11:g.1806346_1806347del , CM000666.1:g.1806346_1806347del	GRCh37
NC_000004.10:g.1776144_1776145del	NCBI36
NG_012632.1:g.16308_16309del , LRG_1021:g.16308_16309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1272+99_1272+100del	ENSP00000339824.4:n.1272+99_1272+100del
ENST00000260795.8:c.*322+99_*322+100del	ENSP00000260795.3:n.*322+99_*322+100del
ENST00000352904.6:c.931-205_931-204del	ENSP00000231803.1:n.931-205_931-204del
ENST00000412135.7:c.1254+99_1254+100del	ENSP00000412903.3:n.1254+99_1254+100del
ENST00000440486.8:c.1266+99_1266+100del MANE Select	ENSP00000414914.2:n.1266+99_1266+100del
ENST00000481110.7:c.1266+99_1266+100del	ENSP00000420533.2:n.1266+99_1266+100del
ENST00000260795.6:c.1266+99_1266+100del	ENSP00000260795.2:n.1266+99_1266+100del
ENST00000340107.8:c.1272+99_1272+100del	ENSP00000339824.4:n.1272+99_1272+100del
ENST00000352904.5:c.931-205_931-204del	ENSP00000231803.1:n.931-205_931-204del
ENST00000412135.6:c.931-205_931-204del	ENSP00000412903.2:n.931-205_931-204del
ENST00000440486.6:c.1266+99_1266+100del	ENSP00000414914.2:n.1266+99_1266+100del
ENST00000469068.1:n.128_129del
ENST00000481110.6:c.1266+99_1266+100del	ENSP00000420533.2:n.1266+99_1266+100del
ENST00000613647.4:c.*322+99_*322+100del	ENSP00000479472.1:n.*322+99_*322+100del
NM_000142.4:c.1266+99_1266+100del , LRG_1021t1:c.1266+99_1266+100del	NP_000133.1:n.1266+99_1266+100del
NM_001163213.1:c.1272+99_1272+100del , LRG_1021t2:c.1272+99_1272+100del	NP_001156685.1:n.1272+99_1272+100del
NM_022965.3:c.931-205_931-204del	NP_075254.1:n.931-205_931-204del
XM_006713868.1:c.1278+93_1278+94del	XP_006713931.1:n.1278+93_1278+94del
XM_006713869.1:c.1278+93_1278+94del	XP_006713932.1:n.1278+93_1278+94del
XM_006713870.1:c.1272+99_1272+100del	XP_006713933.1:n.1272+99_1272+100del
XM_006713871.1:c.1272+99_1272+100del	XP_006713934.1:n.1272+99_1272+100del
XM_006713872.1:c.1266+99_1266+100del	XP_006713935.1:n.1266+99_1266+100del
XM_006713873.1:c.1266+99_1266+100del	XP_006713936.1:n.1266+99_1266+100del
XM_011513420.1:c.1272+93_1272+94del	XP_011511722.1:n.1272+93_1272+94del
XM_011513422.1:c.1266+99_1266+100del	XP_011511724.1:n.1266+99_1266+100del
NM_001354809.1:c.1266+99_1266+100del	NP_001341738.1:n.1266+99_1266+100del
NM_001354810.1:c.1266+99_1266+100del	NP_001341739.1:n.1266+99_1266+100del
NR_148971.1:n.1673+99_1673+100del
NM_001354809.2:c.1266+99_1266+100del	NP_001341738.1:n.1266+99_1266+100del
NM_001354810.2:c.1266+99_1266+100del	NP_001341739.1:n.1266+99_1266+100del
NR_148971.2:n.1692+99_1692+100del
NM_000142.5:c.1266+99_1266+100del MANE Select	NP_000133.1:n.1266+99_1266+100del
NM_001163213.2:c.1272+99_1272+100del	NP_001156685.1:n.1272+99_1272+100del
NM_022965.4:c.931-205_931-204del	NP_075254.1:n.931-205_931-204del