Canonical Allele Identifier: CA604481856

Gene: FGD4

Linked Data

• dbSNP Id: rs1479907915
• gnomAD v2: 12-32735125-CACTCTTAGCTCAGATACTTCT-C
• gnomAD v4: 12-32582191-CACTCTTAGCTCAGATACTTCT-C
• MyVariant Identifiers: chr12:g.32735126_32735146del (hg19) ; chr12:g.32582192_32582212del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32582193_32582213del , CM000674.2:g.32582193_32582213del	GRCh38
NC_000012.11:g.32735127_32735147del , CM000674.1:g.32735127_32735147del	GRCh37
NC_000012.10:g.32626394_32626414del	NCBI36
NG_008626.2:g.187665_187685del

Transcript Alleles

HGVS	Amino-acid change
ENST00000427716.7:c.326_346del	ENSP00000394487.2:p.Thr109_Ser115del
ENST00000531134.7:c.581_601del	ENSP00000431323.1:p.Thr194_Ser200del
ENST00000583694.2:c.326_346del	ENSP00000462623.2:p.Thr109_Ser115del
ENST00000682739.1:c.47_67del	ENSP00000507616.1:p.Thr16_Ser22del
ENST00000683182.1:c.-449-16304_-449-16284del	ENSP00000507831.1:n.-449-16304_-449-16284...
ENST00000525053.6:c.326_346del	ENSP00000433666.2:p.Thr109_Ser115del
ENST00000531134.6:c.581_601del	ENSP00000431323.1:p.Thr194_Ser200del
ENST00000534526.7:c.737_757del MANE Select	ENSP00000449273.1:p.Thr246_Ser252del
ENST00000395740.5:c.326_346del	ENSP00000379089.1:p.Thr109_Ser115del
ENST00000427716.6:c.326_346del	ENSP00000394487.2:p.Thr109_Ser115del
ENST00000472289.5:c.326_346del	ENSP00000434356.1:p.Thr109_Ser115del
ENST00000493087.5:c.326_346del	ENSP00000437109.1:p.Thr109_Ser115del
ENST00000494275.5:n.677_697del
ENST00000525053.5:c.662_682del	ENSP00000433666.1:p.Thr221_Ser227del
ENST00000531134.5:c.581_601del	ENSP00000431323.1:p.Thr194_Ser200del
ENST00000534526.6:c.737_757del	ENSP00000449273.1:p.Thr246_Ser252del
ENST00000546442.5:c.47_67del	ENSP00000446695.1:p.Thr16_Ser22del
ENST00000550091.5:n.491_511del
ENST00000551984.5:c.92+5744_92+5764del	ENSP00000449614.1:n.92+5744_92+5764del
NM_001304480.1:c.662_682del	NP_001291409.1:p.Thr221_Ser227del
NM_001304481.1:c.581_601del	NP_001291410.1:p.Thr194_Ser200del
NM_001304483.1:c.-519_-499del	NP_001291412.1:n.-519_-499del
NM_001304484.1:c.-826_-806del	NP_001291413.1:n.-826_-806del
NM_139241.3:c.326_346del	NP_640334.2:p.Thr109_Ser115del
XM_005253304.3:c.818_838del	XP_005253361.1:p.Thr273_Ser279del
XM_005253307.2:c.47_67del	XP_005253364.1:p.Thr16_Ser22del
XM_005253308.3:c.47_67del	XP_005253365.1:p.Thr16_Ser22del
XM_005253309.1:c.47_67del	XP_005253366.1:p.Thr16_Ser22del
XM_011520554.1:c.620_640del	XP_011518856.1:p.Thr207_Ser213del
XM_011520555.1:c.326_346del	XP_011518857.1:p.Thr109_Ser115del
XM_011520556.1:c.326_346del	XP_011518858.1:p.Thr109_Ser115del
XM_011520557.1:c.49-16304_49-16284del	XP_011518859.1:n.49-16304_49-16284del
NM_001330373.1:c.47_67del	NP_001317302.1:p.Thr16_Ser22del
NM_001330374.1:c.47_67del	NP_001317303.1:p.Thr16_Ser22del
XM_005253304.4:c.818_838del	XP_005253361.1:p.Thr273_Ser279del
XM_005253308.5:c.47_67del	XP_005253365.1:p.Thr16_Ser22del
XM_005253310.4:c.-519_-499del	XP_005253367.1:n.-519_-499del
XM_017018803.1:c.818_838del	XP_016874292.1:p.Thr273_Ser279del
XM_017018805.1:c.49-16304_49-16284del	XP_016874294.1:n.49-16304_49-16284del
XM_024448837.1:c.47_67del	XP_024304605.1:p.Thr16_Ser22del
XM_024448838.1:c.47_67del	XP_024304606.1:p.Thr16_Ser22del
XM_024448839.1:c.47_67del	XP_024304607.1:p.Thr16_Ser22del
XM_024448840.1:c.-202-16304_-202-16284del	XP_024304608.1:n.-202-16304_-202-16284del...
XR_001748576.1:n.1008_1028del
NM_001370297.1:c.49-16304_49-16284del	NP_001357226.1:n.49-16304_49-16284del
NM_001370298.1:c.818_838del	NP_001357227.1:p.Thr273_Ser279del
NM_001304483.2:c.-519_-499del	NP_001291412.1:n.-519_-499del
NM_001304484.2:c.-826_-806del	NP_001291413.1:n.-826_-806del
NM_001330373.2:c.47_67del	NP_001317302.1:p.Thr16_Ser22del
NM_001330374.2:c.47_67del	NP_001317303.1:p.Thr16_Ser22del
NM_001370298.3:c.737_757del MANE Select	NP_001357227.2:p.Thr246_Ser252del
NM_001384126.1:c.737_757del	NP_001371055.1:p.Thr246_Ser252del
NM_001384127.1:c.326_346del	NP_001371056.1:p.Thr109_Ser115del
NM_001384128.1:c.326_346del	NP_001371057.1:p.Thr109_Ser115del
NM_001384130.1:c.47_67del	NP_001371059.1:p.Thr16_Ser22del
NM_001384131.1:c.326_346del	NP_001371060.1:p.Thr109_Ser115del
NM_001384132.1:c.326_346del	NP_001371061.1:p.Thr109_Ser115del
NM_001385118.1:c.326_346del	NP_001372047.1:p.Thr109_Ser115del
NR_168884.1:n.563_583del