Canonical Allele Identifier: CA549175555

Gene: FGFR3

Linked Data

• dbSNP Id: rs1560428182
• gnomAD v2: 4-1805600-CTG-C
• MyVariant Identifiers: chr4:g.1805601_1805602del (hg19) ; chr4:g.1803874_1803875del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1803874_1803875del , CM000666.2:g.1803874_1803875del	GRCh38
NC_000004.11:g.1805601_1805602del , CM000666.1:g.1805601_1805602del	GRCh37
NC_000004.10:g.1775399_1775400del	NCBI36
NG_012632.1:g.15563_15564del , LRG_1021:g.15563_15564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1082-456_1082-455del	ENSP00000339824.4:n.1082-456_1082-455del
ENST00000260795.8:c.*131+38_*131+39del	ENSP00000260795.3:n.*131+38_*131+39del
ENST00000352904.6:c.931-950_931-949del	ENSP00000231803.1:n.931-950_931-949del
ENST00000412135.7:c.1063+38_1063+39del	ENSP00000412903.3:n.1063+38_1063+39del
ENST00000440486.8:c.1075+38_1075+39del MANE Select	ENSP00000414914.2:n.1075+38_1075+39del
ENST00000481110.7:c.1075+38_1075+39del	ENSP00000420533.2:n.1075+38_1075+39del
ENST00000643463.1:n.227-456_227-455del
ENST00000260795.6:c.1075+38_1075+39del	ENSP00000260795.2:n.1075+38_1075+39del
ENST00000340107.8:c.1082-456_1082-455del	ENSP00000339824.4:n.1082-456_1082-455del
ENST00000352904.5:c.931-950_931-949del	ENSP00000231803.1:n.931-950_931-949del
ENST00000412135.6:c.931-950_931-949del	ENSP00000412903.2:n.931-950_931-949del
ENST00000440486.6:c.1075+38_1075+39del	ENSP00000414914.2:n.1075+38_1075+39del
ENST00000481110.6:c.1075+38_1075+39del	ENSP00000420533.2:n.1075+38_1075+39del
ENST00000613647.4:c.*131+38_*131+39del	ENSP00000479472.1:n.*131+38_*131+39del
NM_000142.4:c.1075+38_1075+39del , LRG_1021t1:c.1075+38_1075+39del	NP_000133.1:n.1075+38_1075+39del
NM_001163213.1:c.1082-456_1082-455del , LRG_1021t2:c.1082-456_1082-455del	NP_001156685.1:n.1082-456_1082-455del
NM_022965.3:c.931-950_931-949del	NP_075254.1:n.931-950_931-949del
XM_006713868.1:c.1082-456_1082-455del	XP_006713931.1:n.1082-456_1082-455del
XM_006713869.1:c.1082-456_1082-455del	XP_006713932.1:n.1082-456_1082-455del
XM_006713870.1:c.1082-456_1082-455del	XP_006713933.1:n.1082-456_1082-455del
XM_006713871.1:c.1082-456_1082-455del	XP_006713934.1:n.1082-456_1082-455del
XM_006713872.1:c.1075+38_1075+39del	XP_006713935.1:n.1075+38_1075+39del
XM_006713873.1:c.1075+38_1075+39del	XP_006713936.1:n.1075+38_1075+39del
XM_011513420.1:c.1075+38_1075+39del	XP_011511722.1:n.1075+38_1075+39del
XM_011513422.1:c.1075+38_1075+39del	XP_011511724.1:n.1075+38_1075+39del
NM_001354809.1:c.1075+38_1075+39del	NP_001341738.1:n.1075+38_1075+39del
NM_001354810.1:c.1075+38_1075+39del	NP_001341739.1:n.1075+38_1075+39del
NR_148971.1:n.1482+38_1482+39del
NM_001354809.2:c.1075+38_1075+39del	NP_001341738.1:n.1075+38_1075+39del
NM_001354810.2:c.1075+38_1075+39del	NP_001341739.1:n.1075+38_1075+39del
NR_148971.2:n.1501+38_1501+39del
NM_000142.5:c.1075+38_1075+39del MANE Select	NP_000133.1:n.1075+38_1075+39del
NM_001163213.2:c.1082-456_1082-455del	NP_001156685.1:n.1082-456_1082-455del
NM_022965.4:c.931-950_931-949del	NP_075254.1:n.931-950_931-949del