Canonical Allele Identifier: CA2810512

Gene: FGFR3

Linked Data

• dbSNP Id: rs754412063
• ExAC: 4:1807430 CGGCCCTCCT / C
• gnomAD v2: 4-1807430-CGGCCCTCCT-C
• gnomAD v3: 4-1805703-CGGCCCTCCT-C
• gnomAD v4: 4-1805703-CGGCCCTCCT-C
• MyVariant Identifiers: chr4:g.1807431_1807439del (hg19) ; chr4:g.1805704_1805712del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805706_1805714del , CM000666.2:g.1805706_1805714del	GRCh38
NC_000004.11:g.1807433_1807441del , CM000666.1:g.1807433_1807441del	GRCh37
NC_000004.10:g.1777231_1777239del	NCBI36
NG_012632.1:g.17395_17403del , LRG_1021:g.17395_17403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1651+37_1652-36del	ENSP00000339824.4:n.1651+37_1652-36del
ENST00000260795.8:c.*701+37_*702-36del	ENSP00000260795.3:n.*701+37_*702-36del
ENST00000352904.6:c.1309+37_1310-36del	ENSP00000231803.1:n.1309+37_1310-36del
ENST00000412135.7:c.1633+37_1634-36del	ENSP00000412903.3:n.1633+37_1634-36del
ENST00000440486.8:c.1645+37_1646-36del MANE Select	ENSP00000414914.2:n.1645+37_1646-36del
ENST00000481110.7:c.1648+37_1649-36del	ENSP00000420533.2:n.1648+37_1649-36del
ENST00000260795.6:c.1645+37_1646-36del	ENSP00000260795.2:n.1645+37_1646-36del
ENST00000340107.8:c.1651+37_1652-36del	ENSP00000339824.4:n.1651+37_1652-36del
ENST00000352904.5:c.1309+37_1310-36del	ENSP00000231803.1:n.1309+37_1310-36del
ENST00000412135.6:c.1309+37_1310-36del	ENSP00000412903.2:n.1309+37_1310-36del
ENST00000440486.6:c.1645+37_1646-36del	ENSP00000414914.2:n.1645+37_1646-36del
ENST00000469068.1:n.711+37_712-36del
ENST00000481110.6:c.1648+37_1649-36del	ENSP00000420533.2:n.1648+37_1649-36del
ENST00000613647.4:c.*701+37_*702-36del	ENSP00000479472.1:n.*701+37_*702-36del
NM_000142.4:c.1645+37_1646-36del , LRG_1021t1:c.1645+37_1646-36del	NP_000133.1:n.1645+37_1646-36del
NM_001163213.1:c.1651+37_1652-36del , LRG_1021t2:c.1651+37_1652-36del	NP_001156685.1:n.1651+37_1652-36del
NM_022965.3:c.1309+37_1310-36del	NP_075254.1:n.1309+37_1310-36del
XM_006713868.1:c.1657+37_1658-36del	XP_006713931.1:n.1657+37_1658-36del
XM_006713869.1:c.1657+37_1658-36del	XP_006713932.1:n.1657+37_1658-36del
XM_006713870.1:c.1654+37_1655-36del	XP_006713933.1:n.1654+37_1655-36del
XM_006713871.1:c.1651+37_1652-36del	XP_006713934.1:n.1651+37_1652-36del
XM_006713872.1:c.1648+37_1649-36del	XP_006713935.1:n.1648+37_1649-36del
XM_006713873.1:c.1645+37_1646-36del	XP_006713936.1:n.1645+37_1646-36del
XM_011513420.1:c.1651+37_1652-36del	XP_011511722.1:n.1651+37_1652-36del
XM_011513422.1:c.1648+37_1649-36del	XP_011511724.1:n.1648+37_1649-36del
NM_001354809.1:c.1648+37_1649-36del	NP_001341738.1:n.1648+37_1649-36del
NM_001354810.1:c.1648+37_1649-36del	NP_001341739.1:n.1648+37_1649-36del
NR_148971.1:n.2052+37_2053-36del
NM_001354809.2:c.1648+37_1649-36del	NP_001341738.1:n.1648+37_1649-36del
NM_001354810.2:c.1648+37_1649-36del	NP_001341739.1:n.1648+37_1649-36del
NR_148971.2:n.2071+37_2072-36del
NM_000142.5:c.1645+37_1646-36del MANE Select	NP_000133.1:n.1645+37_1646-36del
NM_001163213.2:c.1651+37_1652-36del	NP_001156685.1:n.1651+37_1652-36del
NM_022965.4:c.1309+37_1310-36del	NP_075254.1:n.1309+37_1310-36del