Canonical Allele Identifier: CA10588546
Community Standard Title: NM_001370298.3(FGD4):c.1808_1809del (p.Thr603SerfsTer8)
Gene: FGD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32619756_32619757del , CM000674.2:g.32619756_32619757del GRCh38
NC_000012.11:g.32772690_32772691del , CM000674.1:g.32772690_32772691del GRCh37
NC_000012.10:g.32663957_32663958del NCBI36
NG_008626.2:g.225228_225229del

Transcript Alleles

HGVS Amino-acid Change
NM_001370298.3:c.1808_1809del MANE Select NP_001357227.2:p.Thr603SerfsTer8
ENST00000534526.7:c.1808_1809del MANE Select ENSP00000449273.1:p.Thr603SerfsTer8
NM_001304480.1:c.1733_1734del NP_001291409.1:p.Thr578SerfsTer8
NM_001304481.1:c.1652_1653del NP_001291410.1:p.Thr551SerfsTer8
NM_001304483.1:c.653_654del NP_001291412.1:p.Thr218SerfsTer8
NM_001304483.2:c.653_654del NP_001291412.1:p.Thr218SerfsTer8
NM_001304484.1:c.365_366del NP_001291413.1:p.Thr122SerfsTer8
NM_001304484.2:c.365_366del NP_001291413.1:p.Thr122SerfsTer8
NM_001330373.1:c.1118_1119del NP_001317302.1:p.Thr373SerfsTer8
NM_001330373.2:c.1118_1119del NP_001317302.1:p.Thr373SerfsTer8
NM_001330374.1:c.1118_1119del NP_001317303.1:p.Thr373SerfsTer8
NM_001330374.2:c.1118_1119del NP_001317303.1:p.Thr373SerfsTer8
NM_001370297.1:c.845_846del NP_001357226.1:p.Thr282SerfsTer8
NM_001370298.1:c.1889_1890del NP_001357227.1:p.Thr630SerfsTer8
NM_001384126.1:c.1808_1809del NP_001371055.1:p.Thr603SerfsTer8
NM_001384127.1:c.1397_1398del NP_001371056.1:p.Thr466SerfsTer8
NM_001384128.1:c.1397_1398del NP_001371057.1:p.Thr466SerfsTer8
NM_001384130.1:c.1118_1119del NP_001371059.1:p.Thr373SerfsTer8
NM_001385118.1:c.1397_1398del NP_001372047.1:p.Thr466SerfsTer8
NM_139241.3:c.1397_1398del NP_640334.2:p.Thr466SerfsTer8
ENST00000395740.5:c.*789_*790del ENSP00000379089.1:n.*789_*790del
ENST00000427716.6:c.1397_1398del ENSP00000394487.2:p.Thr466SerfsTer8
ENST00000427716.7:c.1397_1398del ENSP00000394487.2:p.Thr466SerfsTer8
ENST00000493087.5:c.*808_*809del ENSP00000437109.1:n.*808_*809del
ENST00000494977.1:c.986_987del
ENST00000525053.5:c.1733_1734del ENSP00000433666.1:p.Thr578SerfsTer8
ENST00000525053.6:c.1397_1398del ENSP00000433666.2:p.Thr466SerfsTer8
ENST00000531134.5:c.1652_1653del ENSP00000431323.1:p.Thr551SerfsTer8
ENST00000531134.6:c.1652_1653del ENSP00000431323.1:p.Thr551SerfsTer8
ENST00000531134.7:c.1652_1653del ENSP00000431323.1:p.Thr551SerfsTer8
ENST00000534526.6:c.1808_1809del ENSP00000449273.1:p.Thr603SerfsTer8
ENST00000546442.5:c.1118_1119del ENSP00000446695.1:p.Thr373SerfsTer8
ENST00000551984.5:c.*766_*767del ENSP00000449614.1:n.*766_*767del
ENST00000583694.2:c.1397_1398del ENSP00000462623.2:p.Thr466SerfsTer8
ENST00000682739.1:c.1118_1119del ENSP00000507616.1:p.Thr373SerfsTer8
ENST00000683182.1:c.209_210del ENSP00000507831.1:p.Thr70SerfsTer8
ENST00000683515.1:n.904_905del
ENST00000684033.1:n.195_196del
XM_005253304.3:c.1889_1890del XP_005253361.1:p.Thr630SerfsTer8
XM_005253304.4:c.1889_1890del XP_005253361.1:p.Thr630SerfsTer8
XM_005253307.2:c.1118_1119del XP_005253364.1:p.Thr373SerfsTer8
XM_005253308.3:c.1118_1119del XP_005253365.1:p.Thr373SerfsTer8
XM_005253308.5:c.1118_1119del XP_005253365.1:p.Thr373SerfsTer8
XM_005253309.1:c.1118_1119del XP_005253366.1:p.Thr373SerfsTer8
XM_005253310.3:c.653_654del XP_005253367.1:p.Thr218SerfsTer8
XM_005253310.4:c.653_654del XP_005253367.1:p.Thr218SerfsTer8
XM_011520554.1:c.1691_1692del XP_011518856.1:p.Thr564SerfsTer8
XM_011520555.1:c.1397_1398del XP_011518857.1:p.Thr466SerfsTer8
XM_011520556.1:c.1397_1398del XP_011518858.1:p.Thr466SerfsTer8
XM_011520557.1:c.845_846del XP_011518859.1:p.Thr282SerfsTer8
XM_011520558.1:c.800_801del XP_011518860.1:p.Thr267SerfsTer8
XM_011520558.2:c.800_801del XP_011518860.1:p.Thr267SerfsTer8
XM_011520559.1:c.632_633del XP_011518861.1:p.Thr211SerfsTer8
XM_011520559.3:c.632_633del XP_011518861.1:p.Thr211SerfsTer8
XM_017018803.1:c.1889_1890del XP_016874292.1:p.Thr630SerfsTer8
XM_017018805.1:c.845_846del XP_016874294.1:p.Thr282SerfsTer8
XM_024448837.1:c.1118_1119del XP_024304605.1:p.Thr373SerfsTer8
XM_024448838.1:c.1118_1119del XP_024304606.1:p.Thr373SerfsTer8
XM_024448839.1:c.1118_1119del XP_024304607.1:p.Thr373SerfsTer8
XM_024448840.1:c.506_507del XP_024304608.1:p.Thr169SerfsTer8