Canonical Allele Identifier: CA2669553065

Gene: FGFR3

Linked Data

• gnomAD v4: 4-1804566-CCTCCTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1804567_1804573del , CM000666.2:g.1804567_1804573del	GRCh38
NC_000004.11:g.1806294_1806300del , CM000666.1:g.1806294_1806300del	GRCh37
NC_000004.10:g.1776092_1776098del	NCBI36
NG_012632.1:g.16256_16262del , LRG_1021:g.16256_16262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1272+47_1272+53del	ENSP00000339824.4:n.1272+47_1272+53del
ENST00000260795.8:c.*322+47_*322+53del	ENSP00000260795.3:n.*322+47_*322+53del
ENST00000352904.6:c.931-257_931-251del	ENSP00000231803.1:n.931-257_931-251del
ENST00000412135.7:c.1254+47_1254+53del	ENSP00000412903.3:n.1254+47_1254+53del
ENST00000440486.8:c.1266+47_1266+53del MANE Select	ENSP00000414914.2:n.1266+47_1266+53del
ENST00000481110.7:c.1266+47_1266+53del	ENSP00000420533.2:n.1266+47_1266+53del
ENST00000260795.6:c.1266+47_1266+53del	ENSP00000260795.2:n.1266+47_1266+53del
ENST00000340107.8:c.1272+47_1272+53del	ENSP00000339824.4:n.1272+47_1272+53del
ENST00000352904.5:c.931-257_931-251del	ENSP00000231803.1:n.931-257_931-251del
ENST00000412135.6:c.931-257_931-251del	ENSP00000412903.2:n.931-257_931-251del
ENST00000440486.6:c.1266+47_1266+53del	ENSP00000414914.2:n.1266+47_1266+53del
ENST00000469068.1:n.76_82del
ENST00000481110.6:c.1266+47_1266+53del	ENSP00000420533.2:n.1266+47_1266+53del
ENST00000613647.4:c.*322+47_*322+53del	ENSP00000479472.1:n.*322+47_*322+53del
NM_000142.4:c.1266+47_1266+53del , LRG_1021t1:c.1266+47_1266+53del	NP_000133.1:n.1266+47_1266+53del
NM_001163213.1:c.1272+47_1272+53del , LRG_1021t2:c.1272+47_1272+53del	NP_001156685.1:n.1272+47_1272+53del
NM_022965.3:c.931-257_931-251del	NP_075254.1:n.931-257_931-251del
XM_006713868.1:c.1278+41_1278+47del	XP_006713931.1:n.1278+41_1278+47del
XM_006713869.1:c.1278+41_1278+47del	XP_006713932.1:n.1278+41_1278+47del
XM_006713870.1:c.1272+47_1272+53del	XP_006713933.1:n.1272+47_1272+53del
XM_006713871.1:c.1272+47_1272+53del	XP_006713934.1:n.1272+47_1272+53del
XM_006713872.1:c.1266+47_1266+53del	XP_006713935.1:n.1266+47_1266+53del
XM_006713873.1:c.1266+47_1266+53del	XP_006713936.1:n.1266+47_1266+53del
XM_011513420.1:c.1272+41_1272+47del	XP_011511722.1:n.1272+41_1272+47del
XM_011513422.1:c.1266+47_1266+53del	XP_011511724.1:n.1266+47_1266+53del
NM_001354809.1:c.1266+47_1266+53del	NP_001341738.1:n.1266+47_1266+53del
NM_001354810.1:c.1266+47_1266+53del	NP_001341739.1:n.1266+47_1266+53del
NR_148971.1:n.1673+47_1673+53del
NM_001354809.2:c.1266+47_1266+53del	NP_001341738.1:n.1266+47_1266+53del
NM_001354810.2:c.1266+47_1266+53del	NP_001341739.1:n.1266+47_1266+53del
NR_148971.2:n.1692+47_1692+53del
NM_000142.5:c.1266+47_1266+53del MANE Select	NP_000133.1:n.1266+47_1266+53del
NM_001163213.2:c.1272+47_1272+53del	NP_001156685.1:n.1272+47_1272+53del
NM_022965.4:c.931-257_931-251del	NP_075254.1:n.931-257_931-251del