Canonical Allele Identifier: CA604222361

Gene: FGD4

Linked Data

• dbSNP Id: rs1418889970
• gnomAD v2: 12-32751733-CTA-C
• gnomAD v3: 12-32598799-CTA-C
• gnomAD v4: 12-32598799-CTA-C
• MyVariant Identifiers: chr12:g.32751734_32751735del (hg19) ; chr12:g.32598800_32598801del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32598801_32598802del , CM000674.2:g.32598801_32598802del	GRCh38
NC_000012.11:g.32751735_32751736del , CM000674.1:g.32751735_32751736del	GRCh37
NC_000012.10:g.32643002_32643003del	NCBI36
NG_008626.2:g.204273_204274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.690+215_690+216del	ENSP00000394487.2:n.690+215_690+216del
ENST00000531134.7:c.945+215_945+216del	ENSP00000431323.1:n.945+215_945+216del
ENST00000583694.2:c.690+215_690+216del	ENSP00000462623.2:n.690+215_690+216del
ENST00000682739.1:c.411+215_411+216del	ENSP00000507616.1:n.411+215_411+216del
ENST00000683182.1:c.-360+215_-360+216del	ENSP00000507831.1:n.-360+215_-360+216del
ENST00000683515.1:n.197+215_197+216del
ENST00000525053.6:c.690+215_690+216del	ENSP00000433666.2:n.690+215_690+216del
ENST00000531134.6:c.945+215_945+216del	ENSP00000431323.1:n.945+215_945+216del
ENST00000534526.7:c.1101+215_1101+216del MANE Select	ENSP00000449273.1:n.1101+215_1101+216del
ENST00000395740.5:c.690+215_690+216del	ENSP00000379089.1:n.690+215_690+216del
ENST00000427716.6:c.690+215_690+216del	ENSP00000394487.2:n.690+215_690+216del
ENST00000493087.5:c.690+215_690+216del	ENSP00000437109.1:n.690+215_690+216del
ENST00000494977.1:c.179+215_179+216del
ENST00000525053.5:c.1026+215_1026+216del	ENSP00000433666.1:n.1026+215_1026+216del
ENST00000531134.5:c.945+215_945+216del	ENSP00000431323.1:n.945+215_945+216del
ENST00000534526.6:c.1101+215_1101+216del	ENSP00000449273.1:n.1101+215_1101+216del
ENST00000546442.5:c.411+215_411+216del	ENSP00000446695.1:n.411+215_411+216del
ENST00000551984.5:c.*59+215_*59+216del	ENSP00000449614.1:n.*59+215_*59+216del
NM_001304480.1:c.1026+215_1026+216del	NP_001291409.1:n.1026+215_1026+216del
NM_001304481.1:c.945+215_945+216del	NP_001291410.1:n.945+215_945+216del
NM_001304483.1:c.-155+215_-155+216del	NP_001291412.1:n.-155+215_-155+216del
NM_001304484.1:c.-462+215_-462+216del	NP_001291413.1:n.-462+215_-462+216del
NM_139241.3:c.690+215_690+216del	NP_640334.2:n.690+215_690+216del
XM_005253304.3:c.1182+215_1182+216del	XP_005253361.1:n.1182+215_1182+216del
XM_005253307.2:c.411+215_411+216del	XP_005253364.1:n.411+215_411+216del
XM_005253308.3:c.411+215_411+216del	XP_005253365.1:n.411+215_411+216del
XM_005253309.1:c.411+215_411+216del	XP_005253366.1:n.411+215_411+216del
XM_011520554.1:c.984+215_984+216del	XP_011518856.1:n.984+215_984+216del
XM_011520555.1:c.690+215_690+216del	XP_011518857.1:n.690+215_690+216del
XM_011520556.1:c.690+215_690+216del	XP_011518858.1:n.690+215_690+216del
XM_011520557.1:c.138+215_138+216del	XP_011518859.1:n.138+215_138+216del
XM_011520558.1:c.93+215_93+216del	XP_011518860.1:n.93+215_93+216del
NM_001330373.1:c.411+215_411+216del	NP_001317302.1:n.411+215_411+216del
NM_001330374.1:c.411+215_411+216del	NP_001317303.1:n.411+215_411+216del
XM_005253304.4:c.1182+215_1182+216del	XP_005253361.1:n.1182+215_1182+216del
XM_005253308.5:c.411+215_411+216del	XP_005253365.1:n.411+215_411+216del
XM_005253310.4:c.-155+215_-155+216del	XP_005253367.1:n.-155+215_-155+216del
XM_011520558.2:c.93+215_93+216del	XP_011518860.1:n.93+215_93+216del
XM_017018803.1:c.1182+215_1182+216del	XP_016874292.1:n.1182+215_1182+216del
XM_017018805.1:c.138+215_138+216del	XP_016874294.1:n.138+215_138+216del
XM_024448837.1:c.411+215_411+216del	XP_024304605.1:n.411+215_411+216del
XM_024448838.1:c.411+215_411+216del	XP_024304606.1:n.411+215_411+216del
XM_024448839.1:c.411+215_411+216del	XP_024304607.1:n.411+215_411+216del
XM_024448840.1:c.-113+215_-113+216del	XP_024304608.1:n.-113+215_-113+216del
XR_001748576.1:n.1372+215_1372+216del
NM_001370297.1:c.138+215_138+216del	NP_001357226.1:n.138+215_138+216del
NM_001370298.1:c.1182+215_1182+216del	NP_001357227.1:n.1182+215_1182+216del
NM_001304483.2:c.-155+215_-155+216del	NP_001291412.1:n.-155+215_-155+216del
NM_001304484.2:c.-462+215_-462+216del	NP_001291413.1:n.-462+215_-462+216del
NM_001330373.2:c.411+215_411+216del	NP_001317302.1:n.411+215_411+216del
NM_001330374.2:c.411+215_411+216del	NP_001317303.1:n.411+215_411+216del
NM_001370298.3:c.1101+215_1101+216del MANE Select	NP_001357227.2:n.1101+215_1101+216del
NM_001384126.1:c.1101+215_1101+216del	NP_001371055.1:n.1101+215_1101+216del
NM_001384127.1:c.690+215_690+216del	NP_001371056.1:n.690+215_690+216del
NM_001384128.1:c.690+215_690+216del	NP_001371057.1:n.690+215_690+216del
NM_001384130.1:c.411+215_411+216del	NP_001371059.1:n.411+215_411+216del
NM_001385118.1:c.690+215_690+216del	NP_001372047.1:n.690+215_690+216del