Canonical Allele Identifier: CA916083296

Gene: FGD4

Linked Data

• ClinVar Variation Id: 856785
• ClinVar RCV Id: RCV001062320
• dbSNP Id: rs1948089932

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32598536del , CM000674.2:g.32598536del	GRCh38
NC_000012.11:g.32751470del , CM000674.1:g.32751470del	GRCh37
NC_000012.10:g.32642737del	NCBI36
NG_008626.2:g.204008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.640del	ENSP00000394487.2:p.Leu214PhefsTer15
ENST00000531134.7:c.895del	ENSP00000431323.1:p.Leu299PhefsTer15
ENST00000583694.2:c.640del	ENSP00000462623.2:p.Leu214PhefsTer15
ENST00000682739.1:c.361del	ENSP00000507616.1:p.Leu121PhefsTer15
ENST00000683182.1:c.-410del	ENSP00000507831.1:n.-410del
ENST00000683515.1:n.147del
ENST00000525053.6:c.640del	ENSP00000433666.2:p.Leu214PhefsTer15
ENST00000531134.6:c.895del	ENSP00000431323.1:p.Leu299PhefsTer15
ENST00000534526.7:c.1051del MANE Select	ENSP00000449273.1:p.Leu351PhefsTer15
ENST00000395740.5:c.640del	ENSP00000379089.1:p.Leu214PhefsTer15
ENST00000427716.6:c.640del	ENSP00000394487.2:p.Leu214PhefsTer15
ENST00000493087.5:c.640del	ENSP00000437109.1:p.Leu214PhefsTer15
ENST00000494977.1:c.129del
ENST00000525053.5:c.976del	ENSP00000433666.1:p.Leu326PhefsTer15
ENST00000531134.5:c.895del	ENSP00000431323.1:p.Leu299PhefsTer15
ENST00000534526.6:c.1051del	ENSP00000449273.1:p.Leu351PhefsTer15
ENST00000546442.5:c.361del	ENSP00000446695.1:p.Leu121PhefsTer15
ENST00000551984.5:c.*9del	ENSP00000449614.1:n.*9del
NM_001304480.1:c.976del	NP_001291409.1:p.Leu326PhefsTer15
NM_001304481.1:c.895del	NP_001291410.1:p.Leu299PhefsTer15
NM_001304483.1:c.-205del	NP_001291412.1:n.-205del
NM_001304484.1:c.-512del	NP_001291413.1:n.-512del
NM_139241.3:c.640del	NP_640334.2:p.Leu214PhefsTer15
XM_005253304.3:c.1132del	XP_005253361.1:p.Leu378PhefsTer15
XM_005253307.2:c.361del	XP_005253364.1:p.Leu121PhefsTer15
XM_005253308.3:c.361del	XP_005253365.1:p.Leu121PhefsTer15
XM_005253309.1:c.361del	XP_005253366.1:p.Leu121PhefsTer15
XM_011520554.1:c.934del	XP_011518856.1:p.Leu312PhefsTer15
XM_011520555.1:c.640del	XP_011518857.1:p.Leu214PhefsTer15
XM_011520556.1:c.640del	XP_011518858.1:p.Leu214PhefsTer15
XM_011520557.1:c.88del	XP_011518859.1:p.Leu30PhefsTer15
XM_011520558.1:c.43del	XP_011518860.1:p.Leu15PhefsTer15
NM_001330373.1:c.361del	NP_001317302.1:p.Leu121PhefsTer15
NM_001330374.1:c.361del	NP_001317303.1:p.Leu121PhefsTer15
XM_005253304.4:c.1132del	XP_005253361.1:p.Leu378PhefsTer15
XM_005253308.5:c.361del	XP_005253365.1:p.Leu121PhefsTer15
XM_005253310.4:c.-205del	XP_005253367.1:n.-205del
XM_011520558.2:c.43del	XP_011518860.1:p.Leu15PhefsTer15
XM_017018803.1:c.1132del	XP_016874292.1:p.Leu378PhefsTer15
XM_017018805.1:c.88del	XP_016874294.1:p.Leu30PhefsTer15
XM_024448837.1:c.361del	XP_024304605.1:p.Leu121PhefsTer15
XM_024448838.1:c.361del	XP_024304606.1:p.Leu121PhefsTer15
XM_024448839.1:c.361del	XP_024304607.1:p.Leu121PhefsTer15
XM_024448840.1:c.-163del	XP_024304608.1:n.-163del
XR_001748576.1:n.1322del
NM_001370297.1:c.88del	NP_001357226.1:p.Leu30PhefsTer15
NM_001370298.1:c.1132del	NP_001357227.1:p.Leu378PhefsTer15
NM_001304483.2:c.-205del	NP_001291412.1:n.-205del
NM_001304484.2:c.-512del	NP_001291413.1:n.-512del
NM_001330373.2:c.361del	NP_001317302.1:p.Leu121PhefsTer15
NM_001330374.2:c.361del	NP_001317303.1:p.Leu121PhefsTer15
NM_001370298.3:c.1051del MANE Select	NP_001357227.2:p.Leu351PhefsTer15
NM_001384126.1:c.1051del	NP_001371055.1:p.Leu351PhefsTer15
NM_001384127.1:c.640del	NP_001371056.1:p.Leu214PhefsTer15
NM_001384128.1:c.640del	NP_001371057.1:p.Leu214PhefsTer15
NM_001384130.1:c.361del	NP_001371059.1:p.Leu121PhefsTer15
NM_001385118.1:c.640del	NP_001372047.1:p.Leu214PhefsTer15