Canonical Allele Identifier: CA604481854

Gene: FGD4

Linked Data

• ClinVar Variation Id: 654496
• ClinVar RCV Id: RCV000810469 ; RCV002319585
• dbSNP Id: rs1314855895
• gnomAD v2: 12-32735106-GTGAGGAGGAGAAAGC-G
• gnomAD v3: 12-32582172-GTGAGGAGGAGAAAGC-G
• gnomAD v4: 12-32582172-GTGAGGAGGAGAAAGC-G
• MyVariant Identifiers: chr12:g.32735107_32735121del (hg19) ; chr12:g.32582173_32582187del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32582175_32582189del , CM000674.2:g.32582175_32582189del	GRCh38
NC_000012.11:g.32735109_32735123del , CM000674.1:g.32735109_32735123del	GRCh37
NC_000012.10:g.32626376_32626390del	NCBI36
NG_008626.2:g.187647_187661del

Transcript Alleles

HGVS	Amino-acid change
ENST00000427716.7:c.308_322del	ENSP00000394487.2:p.Glu103_Ala107del
ENST00000531134.7:c.563_577del	ENSP00000431323.1:p.Glu188_Ala192del
ENST00000583694.2:c.308_322del	ENSP00000462623.2:p.Glu103_Ala107del
ENST00000682739.1:c.29_43del	ENSP00000507616.1:p.Glu10_Ala14del
ENST00000683182.1:c.-449-16322_-449-16308del	ENSP00000507831.1:n.-449-16322_-449-16308...
ENST00000525053.6:c.308_322del	ENSP00000433666.2:p.Glu103_Ala107del
ENST00000531134.6:c.563_577del	ENSP00000431323.1:p.Glu188_Ala192del
ENST00000534526.7:c.719_733del MANE Select	ENSP00000449273.1:p.Glu240_Ala244del
ENST00000395740.5:c.308_322del	ENSP00000379089.1:p.Glu103_Ala107del
ENST00000427716.6:c.308_322del	ENSP00000394487.2:p.Glu103_Ala107del
ENST00000472289.5:c.308_322del	ENSP00000434356.1:p.Glu103_Ala107del
ENST00000493087.5:c.308_322del	ENSP00000437109.1:p.Glu103_Ala107del
ENST00000494275.5:n.659_673del
ENST00000525053.5:c.644_658del	ENSP00000433666.1:p.Glu215_Ala219del
ENST00000531134.5:c.563_577del	ENSP00000431323.1:p.Glu188_Ala192del
ENST00000534526.6:c.719_733del	ENSP00000449273.1:p.Glu240_Ala244del
ENST00000546442.5:c.29_43del	ENSP00000446695.1:p.Glu10_Ala14del
ENST00000550091.5:n.473_487del
ENST00000551984.5:c.92+5726_92+5740del	ENSP00000449614.1:n.92+5726_92+5740del
NM_001304480.1:c.644_658del	NP_001291409.1:p.Glu215_Ala219del
NM_001304481.1:c.563_577del	NP_001291410.1:p.Glu188_Ala192del
NM_001304483.1:c.-537_-523del	NP_001291412.1:n.-537_-523del
NM_001304484.1:c.-844_-830del	NP_001291413.1:n.-844_-830del
NM_139241.3:c.308_322del	NP_640334.2:p.Glu103_Ala107del
XM_005253304.3:c.800_814del	XP_005253361.1:p.Glu267_Ala271del
XM_005253307.2:c.29_43del	XP_005253364.1:p.Glu10_Ala14del
XM_005253308.3:c.29_43del	XP_005253365.1:p.Glu10_Ala14del
XM_005253309.1:c.29_43del	XP_005253366.1:p.Glu10_Ala14del
XM_011520554.1:c.602_616del	XP_011518856.1:p.Glu201_Ala205del
XM_011520555.1:c.308_322del	XP_011518857.1:p.Glu103_Ala107del
XM_011520556.1:c.308_322del	XP_011518858.1:p.Glu103_Ala107del
XM_011520557.1:c.49-16322_49-16308del	XP_011518859.1:n.49-16322_49-16308del
NM_001330373.1:c.29_43del	NP_001317302.1:p.Glu10_Ala14del
NM_001330374.1:c.29_43del	NP_001317303.1:p.Glu10_Ala14del
XM_005253304.4:c.800_814del	XP_005253361.1:p.Glu267_Ala271del
XM_005253308.5:c.29_43del	XP_005253365.1:p.Glu10_Ala14del
XM_005253310.4:c.-537_-523del	XP_005253367.1:n.-537_-523del
XM_017018803.1:c.800_814del	XP_016874292.1:p.Glu267_Ala271del
XM_017018805.1:c.49-16322_49-16308del	XP_016874294.1:n.49-16322_49-16308del
XM_024448837.1:c.29_43del	XP_024304605.1:p.Glu10_Ala14del
XM_024448838.1:c.29_43del	XP_024304606.1:p.Glu10_Ala14del
XM_024448839.1:c.29_43del	XP_024304607.1:p.Glu10_Ala14del
XM_024448840.1:c.-202-16322_-202-16308del	XP_024304608.1:n.-202-16322_-202-16308del...
XR_001748576.1:n.990_1004del
NM_001370297.1:c.49-16322_49-16308del	NP_001357226.1:n.49-16322_49-16308del
NM_001370298.1:c.800_814del	NP_001357227.1:p.Glu267_Ala271del
NM_001304483.2:c.-537_-523del	NP_001291412.1:n.-537_-523del
NM_001304484.2:c.-844_-830del	NP_001291413.1:n.-844_-830del
NM_001330373.2:c.29_43del	NP_001317302.1:p.Glu10_Ala14del
NM_001330374.2:c.29_43del	NP_001317303.1:p.Glu10_Ala14del
NM_001370298.3:c.719_733del MANE Select	NP_001357227.2:p.Glu240_Ala244del
NM_001384126.1:c.719_733del	NP_001371055.1:p.Glu240_Ala244del
NM_001384127.1:c.308_322del	NP_001371056.1:p.Glu103_Ala107del
NM_001384128.1:c.308_322del	NP_001371057.1:p.Glu103_Ala107del
NM_001384130.1:c.29_43del	NP_001371059.1:p.Glu10_Ala14del
NM_001384131.1:c.308_322del	NP_001371060.1:p.Glu103_Ala107del
NM_001384132.1:c.308_322del	NP_001371061.1:p.Glu103_Ala107del
NM_001385118.1:c.308_322del	NP_001372047.1:p.Glu103_Ala107del
NR_168884.1:n.545_559del