Canonical Allele Identifier: CA2618214398

Gene: FGD4

Linked Data

• gnomAD v4: 12-32610938-G-GTAACTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32610938_32610939insTAACTTA , CM000674.2:g.32610938_32610939insTAACTTA	GRCh38
NC_000012.11:g.32763872_32763873insTAACTTA , CM000674.1:g.32763872_32763873insTAACTTA	GRCh37
NC_000012.10:g.32655139_32655140insTAACTTA	NCBI36
NG_008626.2:g.216410_216411insTAACTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.1191+104_1191+105insTAACTTA	ENSP00000394487.2:n.1191+104_1191+105insTAACTTA
ENST00000531134.7:c.1446+104_1446+105insTAACTTA	ENSP00000431323.1:n.1446+104_1446+105insTAACTTA
ENST00000583694.2:c.1191+104_1191+105insTAACTTA	ENSP00000462623.2:n.1191+104_1191+105insTAACTTA
ENST00000682739.1:c.912+104_912+105insTAACTTA	ENSP00000507616.1:n.912+104_912+105insTAACTTA
ENST00000683182.1:c.3+104_3+105insTAACTTA	ENSP00000507831.1:n.3+104_3+105insTAACTTA
ENST00000683515.1:n.698+104_698+105insTAACTTA
ENST00000525053.6:c.1191+104_1191+105insTAACTTA	ENSP00000433666.2:n.1191+104_1191+105insTAACTTA
ENST00000531134.6:c.1446+104_1446+105insTAACTTA	ENSP00000431323.1:n.1446+104_1446+105insTAACTTA
ENST00000534526.7:c.1602+104_1602+105insTAACTTA MANE Select	ENSP00000449273.1:n.1602+104_1602+105insTAACTTA
ENST00000395740.5:c.*583+104_*583+105insTAACTTA	ENSP00000379089.1:n.*583+104_*583+105insTAACTTA
ENST00000427716.6:c.1191+104_1191+105insTAACTTA	ENSP00000394487.2:n.1191+104_1191+105insTAACTTA
ENST00000493087.5:c.*602+104_*602+105insTAACTTA	ENSP00000437109.1:n.*602+104_*602+105insTAACTTA
ENST00000494977.1:c.780+104_780+105insTAACTTA
ENST00000525053.5:c.1527+104_1527+105insTAACTTA	ENSP00000433666.1:n.1527+104_1527+105insTAACTTA
ENST00000531134.5:c.1446+104_1446+105insTAACTTA	ENSP00000431323.1:n.1446+104_1446+105insTAACTTA
ENST00000534526.6:c.1602+104_1602+105insTAACTTA	ENSP00000449273.1:n.1602+104_1602+105insTAACTTA
ENST00000546442.5:c.912+104_912+105insTAACTTA	ENSP00000446695.1:n.912+104_912+105insTAACTTA
ENST00000551984.5:c.*560+104_*560+105insTAACTTA	ENSP00000449614.1:n.*560+104_*560+105insTAACTTA
NM_001304480.1:c.1527+104_1527+105insTAACTTA	NP_001291409.1:n.1527+104_1527+105insTAACTTA
NM_001304481.1:c.1446+104_1446+105insTAACTTA	NP_001291410.1:n.1446+104_1446+105insTAACTTA
NM_001304483.1:c.447+104_447+105insTAACTTA	NP_001291412.1:n.447+104_447+105insTAACTTA
NM_001304484.1:c.159+104_159+105insTAACTTA	NP_001291413.1:n.159+104_159+105insTAACTTA
NM_139241.3:c.1191+104_1191+105insTAACTTA	NP_640334.2:n.1191+104_1191+105insTAACTTA
XM_005253304.3:c.1683+104_1683+105insTAACTTA	XP_005253361.1:n.1683+104_1683+105insTAACTTA
XM_005253307.2:c.912+104_912+105insTAACTTA	XP_005253364.1:n.912+104_912+105insTAACTTA
XM_005253308.3:c.912+104_912+105insTAACTTA	XP_005253365.1:n.912+104_912+105insTAACTTA
XM_005253309.1:c.912+104_912+105insTAACTTA	XP_005253366.1:n.912+104_912+105insTAACTTA
XM_005253310.3:c.447+104_447+105insTAACTTA	XP_005253367.1:n.447+104_447+105insTAACTTA
XM_011520554.1:c.1485+104_1485+105insTAACTTA	XP_011518856.1:n.1485+104_1485+105insTAACTTA
XM_011520555.1:c.1191+104_1191+105insTAACTTA	XP_011518857.1:n.1191+104_1191+105insTAACTTA
XM_011520556.1:c.1191+104_1191+105insTAACTTA	XP_011518858.1:n.1191+104_1191+105insTAACTTA
XM_011520557.1:c.639+104_639+105insTAACTTA	XP_011518859.1:n.639+104_639+105insTAACTTA
XM_011520558.1:c.594+104_594+105insTAACTTA	XP_011518860.1:n.594+104_594+105insTAACTTA
XM_011520559.1:c.426+104_426+105insTAACTTA	XP_011518861.1:n.426+104_426+105insTAACTTA
NM_001330373.1:c.912+104_912+105insTAACTTA	NP_001317302.1:n.912+104_912+105insTAACTTA
NM_001330374.1:c.912+104_912+105insTAACTTA	NP_001317303.1:n.912+104_912+105insTAACTTA
XM_005253304.4:c.1683+104_1683+105insTAACTTA	XP_005253361.1:n.1683+104_1683+105insTAACTTA
XM_005253308.5:c.912+104_912+105insTAACTTA	XP_005253365.1:n.912+104_912+105insTAACTTA
XM_005253310.4:c.447+104_447+105insTAACTTA	XP_005253367.1:n.447+104_447+105insTAACTTA
XM_011520558.2:c.594+104_594+105insTAACTTA	XP_011518860.1:n.594+104_594+105insTAACTTA
XM_011520559.3:c.426+104_426+105insTAACTTA	XP_011518861.1:n.426+104_426+105insTAACTTA
XM_017018803.1:c.1683+104_1683+105insTAACTTA	XP_016874292.1:n.1683+104_1683+105insTAACTTA
XM_017018805.1:c.639+104_639+105insTAACTTA	XP_016874294.1:n.639+104_639+105insTAACTTA
XM_024448837.1:c.912+104_912+105insTAACTTA	XP_024304605.1:n.912+104_912+105insTAACTTA
XM_024448838.1:c.912+104_912+105insTAACTTA	XP_024304606.1:n.912+104_912+105insTAACTTA
XM_024448839.1:c.912+104_912+105insTAACTTA	XP_024304607.1:n.912+104_912+105insTAACTTA
XM_024448840.1:c.300+104_300+105insTAACTTA	XP_024304608.1:n.300+104_300+105insTAACTTA
XR_001748576.1:n.1892+104_1892+105insTAACTTA
NM_001370297.1:c.639+104_639+105insTAACTTA	NP_001357226.1:n.639+104_639+105insTAACTTA
NM_001370298.1:c.1683+104_1683+105insTAACTTA	NP_001357227.1:n.1683+104_1683+105insTAACTTA
NM_001304483.2:c.447+104_447+105insTAACTTA	NP_001291412.1:n.447+104_447+105insTAACTTA
NM_001304484.2:c.159+104_159+105insTAACTTA	NP_001291413.1:n.159+104_159+105insTAACTTA
NM_001330373.2:c.912+104_912+105insTAACTTA	NP_001317302.1:n.912+104_912+105insTAACTTA
NM_001330374.2:c.912+104_912+105insTAACTTA	NP_001317303.1:n.912+104_912+105insTAACTTA
NM_001370298.3:c.1602+104_1602+105insTAACTTA MANE Select	NP_001357227.2:n.1602+104_1602+105insTAACTTA
NM_001384126.1:c.1602+104_1602+105insTAACTTA	NP_001371055.1:n.1602+104_1602+105insTAACTTA
NM_001384127.1:c.1191+104_1191+105insTAACTTA	NP_001371056.1:n.1191+104_1191+105insTAACTTA
NM_001384128.1:c.1191+104_1191+105insTAACTTA	NP_001371057.1:n.1191+104_1191+105insTAACTTA
NM_001384130.1:c.912+104_912+105insTAACTTA	NP_001371059.1:n.912+104_912+105insTAACTTA
NM_001385118.1:c.1191+104_1191+105insTAACTTA	NP_001372047.1:n.1191+104_1191+105insTAACTTA