Canonical Allele Identifier: CA687464313

Gene: FGD4

Linked Data

• dbSNP Id: rs1222562960
• gnomAD v3: 12-32642388-AAG-A
• gnomAD v4: 12-32642388-AAG-A
• MyVariant Identifiers: chr12:g.32795323_32795324del (hg19) ; chr12:g.32642389_32642390del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32642392_32642393del , CM000674.2:g.32642392_32642393del	GRCh38
NC_000012.11:g.32795326_32795327del , CM000674.1:g.32795326_32795327del	GRCh37
NC_000012.10:g.32686593_32686594del	NCBI36
NG_008626.2:g.247864_247865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427716.7:c.*1859_*1860del	ENSP00000394487.2:n.*1859_*1860del
ENST00000531134.6:c.*1859_*1860del	ENSP00000431323.1:n.*1859_*1860del
ENST00000534526.7:c.*1859_*1860del MANE Select	ENSP00000449273.1:n.*1859_*1860del
ENST00000427716.6:c.*1859_*1860del	ENSP00000394487.2:n.*1859_*1860del
ENST00000494977.1:c.2110-369_2110-368del
NM_001304480.1:c.*1859_*1860del	NP_001291409.1:n.*1859_*1860del
NM_001304481.1:c.*1859_*1860del	NP_001291410.1:n.*1859_*1860del
NM_001304484.1:c.*1859_*1860del	NP_001291413.1:n.*1859_*1860del
NM_139241.3:c.*1859_*1860del	NP_640334.2:n.*1859_*1860del
XM_005253304.3:c.*1859_*1860del	XP_005253361.1:n.*1859_*1860del
XM_005253307.2:c.*1859_*1860del	XP_005253364.1:n.*1859_*1860del
XM_005253308.3:c.*1859_*1860del	XP_005253365.1:n.*1859_*1860del
XM_005253309.1:c.*1859_*1860del	XP_005253366.1:n.*1859_*1860del
XM_005253310.3:c.*1859_*1860del	XP_005253367.1:n.*1859_*1860del
XM_011520554.1:c.*1859_*1860del	XP_011518856.1:n.*1859_*1860del
XM_011520555.1:c.*1859_*1860del	XP_011518857.1:n.*1859_*1860del
XM_011520556.1:c.*1859_*1860del	XP_011518858.1:n.*1859_*1860del
XM_011520557.1:c.*1859_*1860del	XP_011518859.1:n.*1859_*1860del
XM_011520558.1:c.*1859_*1860del	XP_011518860.1:n.*1859_*1860del
XM_011520559.1:c.*1859_*1860del	XP_011518861.1:n.*1859_*1860del
NM_001330373.1:c.*1859_*1860del	NP_001317302.1:n.*1859_*1860del
NM_001330374.1:c.*1859_*1860del	NP_001317303.1:n.*1859_*1860del
XM_005253304.4:c.*1859_*1860del	XP_005253361.1:n.*1859_*1860del
XM_005253308.5:c.*1859_*1860del	XP_005253365.1:n.*1859_*1860del
XM_005253310.4:c.*1859_*1860del	XP_005253367.1:n.*1859_*1860del
XM_011520558.2:c.*1859_*1860del	XP_011518860.1:n.*1859_*1860del
XM_011520559.3:c.*1859_*1860del	XP_011518861.1:n.*1859_*1860del
XM_017018803.1:c.2713+1939_2713+1940del	XP_016874292.1:n.2713+1939_2713+1940del
XM_017018805.1:c.*1859_*1860del	XP_016874294.1:n.*1859_*1860del
XM_024448837.1:c.*1859_*1860del	XP_024304605.1:n.*1859_*1860del
XM_024448838.1:c.*1859_*1860del	XP_024304606.1:n.*1859_*1860del
XM_024448839.1:c.*1859_*1860del	XP_024304607.1:n.*1859_*1860del
XM_024448840.1:c.*1859_*1860del	XP_024304608.1:n.*1859_*1860del
NM_001370297.1:c.*1859_*1860del	NP_001357226.1:n.*1859_*1860del
NM_001370298.1:c.*1859_*1860del	NP_001357227.1:n.*1859_*1860del
NM_001304484.2:c.*1859_*1860del	NP_001291413.1:n.*1859_*1860del
NM_001330373.2:c.*1859_*1860del	NP_001317302.1:n.*1859_*1860del
NM_001330374.2:c.*1859_*1860del	NP_001317303.1:n.*1859_*1860del
NM_001370298.3:c.*1859_*1860del MANE Select	NP_001357227.2:n.*1859_*1860del
NM_001384126.1:c.2632+1939_2632+1940del	NP_001371055.1:n.2632+1939_2632+1940del
NM_001384127.1:c.2221+1939_2221+1940del	NP_001371056.1:n.2221+1939_2221+1940del
NM_001384128.1:c.2221+1939_2221+1940del	NP_001371057.1:n.2221+1939_2221+1940del
NM_001384130.1:c.*1859_*1860del	NP_001371059.1:n.*1859_*1860del
NM_001385118.1:c.*1859_*1860del	NP_001372047.1:n.*1859_*1860del