Canonical Allele Identifier: CA2739265865
Gene: FGFR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2779086
ClinVar RCV Id: RCV003663391

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1804253_1804314del , CM000666.2:g.1804253_1804314del GRCh38
NC_000004.11:g.1805980_1806041del , CM000666.1:g.1805980_1806041del GRCh37
NC_000004.10:g.1775778_1775839del NCBI36
NG_012632.1:g.15942_16003del , LRG_1021:g.15942_16003del

Transcript Alleles

HGVS Amino-acid change
ENST00000340107.9:c.1082-77_1082-16del ENSP00000339824.4:n.1082-77_1082-16del
ENST00000260795.8:c.*132-77_*132-16del ENSP00000260795.3:n.*132-77_*132-16del
ENST00000352904.6:c.931-571_931-510del ENSP00000231803.1:n.931-571_931-510del
ENST00000412135.7:c.1064-77_1064-16del ENSP00000412903.3:n.1064-77_1064-16del
ENST00000440486.8:c.1076-77_1076-16del MANE Select ENSP00000414914.2:n.1076-77_1076-16del
ENST00000481110.7:c.1076-77_1076-16del ENSP00000420533.2:n.1076-77_1076-16del
ENST00000643463.1:n.227-77_227-16del
ENST00000260795.6:c.1076-77_1076-16del ENSP00000260795.2:n.1076-77_1076-16del
ENST00000340107.8:c.1082-77_1082-16del ENSP00000339824.4:n.1082-77_1082-16del
ENST00000352904.5:c.931-571_931-510del ENSP00000231803.1:n.931-571_931-510del
ENST00000412135.6:c.931-571_931-510del ENSP00000412903.2:n.931-571_931-510del
ENST00000440486.6:c.1076-77_1076-16del ENSP00000414914.2:n.1076-77_1076-16del
ENST00000481110.6:c.1076-77_1076-16del ENSP00000420533.2:n.1076-77_1076-16del
ENST00000613647.4:c.*132-77_*132-16del ENSP00000479472.1:n.*132-77_*132-16del
NM_000142.4:c.1076-77_1076-16del , LRG_1021t1:c.1076-77_1076-16del NP_000133.1:n.1076-77_1076-16del
NM_001163213.1:c.1082-77_1082-16del , LRG_1021t2:c.1082-77_1082-16del NP_001156685.1:n.1082-77_1082-16del
NM_022965.3:c.931-571_931-510del NP_075254.1:n.931-571_931-510del
XM_006713868.1:c.1082-77_1082-16del XP_006713931.1:n.1082-77_1082-16del
XM_006713869.1:c.1082-77_1082-16del XP_006713932.1:n.1082-77_1082-16del
XM_006713870.1:c.1082-77_1082-16del XP_006713933.1:n.1082-77_1082-16del
XM_006713871.1:c.1082-77_1082-16del XP_006713934.1:n.1082-77_1082-16del
XM_006713872.1:c.1076-77_1076-16del XP_006713935.1:n.1076-77_1076-16del
XM_006713873.1:c.1076-77_1076-16del XP_006713936.1:n.1076-77_1076-16del
XM_011513420.1:c.1076-77_1076-16del XP_011511722.1:n.1076-77_1076-16del
XM_011513422.1:c.1076-77_1076-16del XP_011511724.1:n.1076-77_1076-16del
NM_001354809.1:c.1076-77_1076-16del NP_001341738.1:n.1076-77_1076-16del
NM_001354810.1:c.1076-77_1076-16del NP_001341739.1:n.1076-77_1076-16del
NR_148971.1:n.1483-77_1483-16del
NM_001354809.2:c.1076-77_1076-16del NP_001341738.1:n.1076-77_1076-16del
NM_001354810.2:c.1076-77_1076-16del NP_001341739.1:n.1076-77_1076-16del
NR_148971.2:n.1502-77_1502-16del
NM_000142.5:c.1076-77_1076-16del MANE Select NP_000133.1:n.1076-77_1076-16del
NM_001163213.2:c.1082-77_1082-16del NP_001156685.1:n.1082-77_1082-16del
NM_022965.4:c.931-571_931-510del NP_075254.1:n.931-571_931-510del