Canonical Allele Identifier: CA2499221615

Gene: FGD4

Linked Data

• ClinVar Variation Id: 1184559
• ClinVar RCV Id: RCV001542680
• dbSNP Id: rs2136608035
• gnomAD v4: 12-32598579-TAGATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32598582_32598586del , CM000674.2:g.32598582_32598586del	GRCh38
NC_000012.11:g.32751516_32751520del , CM000674.1:g.32751516_32751520del	GRCh37
NC_000012.10:g.32642783_32642787del	NCBI36
NG_008626.2:g.204054_204058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.686_690del	ENSP00000394487.2:p.Asp229GlyfsTer22
ENST00000531134.7:c.941_945del	ENSP00000431323.1:p.Asp314GlyfsTer22
ENST00000583694.2:c.686_690del	ENSP00000462623.2:p.Asp229GlyfsTer22
ENST00000682739.1:c.407_411del	ENSP00000507616.1:p.Asp136GlyfsTer22
ENST00000683182.1:c.-364_-360del	ENSP00000507831.1:n.-364_-360del
ENST00000683515.1:n.193_197del
ENST00000525053.6:c.686_690del	ENSP00000433666.2:p.Asp229GlyfsTer22
ENST00000531134.6:c.941_945del	ENSP00000431323.1:p.Asp314GlyfsTer22
ENST00000534526.7:c.1097_1101del MANE Select	ENSP00000449273.1:p.Asp366GlyfsTer22
ENST00000395740.5:c.686_690del	ENSP00000379089.1:p.Asp229GlufsTer11
ENST00000427716.6:c.686_690del	ENSP00000394487.2:p.Asp229GlyfsTer22
ENST00000493087.5:c.686_690del	ENSP00000437109.1:p.Asp229GlufsTer11
ENST00000494977.1:c.175_179del
ENST00000525053.5:c.1022_1026del	ENSP00000433666.1:p.Asp341GlyfsTer22
ENST00000531134.5:c.941_945del	ENSP00000431323.1:p.Asp314GlyfsTer22
ENST00000534526.6:c.1097_1101del	ENSP00000449273.1:p.Asp366GlyfsTer22
ENST00000546442.5:c.407_411del	ENSP00000446695.1:p.Asp136GlyfsTer22
ENST00000551984.5:c.*55_*59del	ENSP00000449614.1:n.*55_*59del
NM_001304480.1:c.1022_1026del	NP_001291409.1:p.Asp341GlyfsTer22
NM_001304481.1:c.941_945del	NP_001291410.1:p.Asp314GlyfsTer22
NM_001304483.1:c.-159_-155del	NP_001291412.1:n.-159_-155del
NM_001304484.1:c.-466_-462del	NP_001291413.1:n.-466_-462del
NM_139241.3:c.686_690del	NP_640334.2:p.Asp229GlyfsTer22
XM_005253304.3:c.1178_1182del	XP_005253361.1:p.Asp393GlyfsTer22
XM_005253307.2:c.407_411del	XP_005253364.1:p.Asp136GlyfsTer22
XM_005253308.3:c.407_411del	XP_005253365.1:p.Asp136GlyfsTer22
XM_005253309.1:c.407_411del	XP_005253366.1:p.Asp136GlyfsTer22
XM_011520554.1:c.980_984del	XP_011518856.1:p.Asp327GlyfsTer22
XM_011520555.1:c.686_690del	XP_011518857.1:p.Asp229GlyfsTer22
XM_011520556.1:c.686_690del	XP_011518858.1:p.Asp229GlyfsTer22
XM_011520557.1:c.134_138del	XP_011518859.1:p.Asp45GlyfsTer22
XM_011520558.1:c.89_93del	XP_011518860.1:p.Asp30GlyfsTer22
NM_001330373.1:c.407_411del	NP_001317302.1:p.Asp136GlyfsTer22
NM_001330374.1:c.407_411del	NP_001317303.1:p.Asp136GlyfsTer22
XM_005253304.4:c.1178_1182del	XP_005253361.1:p.Asp393GlyfsTer22
XM_005253308.5:c.407_411del	XP_005253365.1:p.Asp136GlyfsTer22
XM_005253310.4:c.-159_-155del	XP_005253367.1:n.-159_-155del
XM_011520558.2:c.89_93del	XP_011518860.1:p.Asp30GlyfsTer22
XM_017018803.1:c.1178_1182del	XP_016874292.1:p.Asp393GlyfsTer22
XM_017018805.1:c.134_138del	XP_016874294.1:p.Asp45GlyfsTer22
XM_024448837.1:c.407_411del	XP_024304605.1:p.Asp136GlyfsTer22
XM_024448838.1:c.407_411del	XP_024304606.1:p.Asp136GlyfsTer22
XM_024448839.1:c.407_411del	XP_024304607.1:p.Asp136GlyfsTer22
XM_024448840.1:c.-117_-113del	XP_024304608.1:n.-117_-113del
XR_001748576.1:n.1368_1372del
NM_001370297.1:c.134_138del	NP_001357226.1:p.Asp45GlyfsTer22
NM_001370298.1:c.1178_1182del	NP_001357227.1:p.Asp393GlyfsTer22
NM_001304483.2:c.-159_-155del	NP_001291412.1:n.-159_-155del
NM_001304484.2:c.-466_-462del	NP_001291413.1:n.-466_-462del
NM_001330373.2:c.407_411del	NP_001317302.1:p.Asp136GlyfsTer22
NM_001330374.2:c.407_411del	NP_001317303.1:p.Asp136GlyfsTer22
NM_001370298.3:c.1097_1101del MANE Select	NP_001357227.2:p.Asp366GlyfsTer22
NM_001384126.1:c.1097_1101del	NP_001371055.1:p.Asp366GlyfsTer22
NM_001384127.1:c.686_690del	NP_001371056.1:p.Asp229GlyfsTer22
NM_001384128.1:c.686_690del	NP_001371057.1:p.Asp229GlyfsTer22
NM_001384130.1:c.407_411del	NP_001371059.1:p.Asp136GlyfsTer22
NM_001385118.1:c.686_690del	NP_001372047.1:p.Asp229GlyfsTer22