Canonical Allele Identifier: CA2825002951

Gene: FGD1 TSR2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54446214dup , CM000685.2:g.54446214dup	GRCh38
NC_000023.10:g.54472647dup , CM000685.1:g.54472647dup	GRCh37
NC_000023.9:g.54489372dup	NCBI36
NG_008054.1:g.54956dup
NG_051993.1:g.10840dup

Transcript Alleles

HGVS	Amino-acid Change
NM_004463.3:c.2784dup (FGD1) MANE Select	NP_004454.2:p.Pro929AlafsTer5
NM_058163.3:c.*1664dup (TSR2) MANE Select	NP_477511.1:n.*1664dup
ENST00000375135.4:c.2784dup (FGD1) MANE Select	ENSP00000364277.3:p.Pro929AlafsTer5
ENST00000375151.5:c.*1664dup (TSR2) MANE Select	ENSP00000364293.4:n.*1664dup
NM_001346789.1:c.*1664dup (TSR2)	NP_001333718.1:n.*1664dup
NM_001346789.2:c.*1664dup (TSR2)	NP_001333718.1:n.*1664dup
NM_001346790.1:c.*1664dup (TSR2)	NP_001333719.1:n.*1664dup
NM_001346790.2:c.*1664dup (TSR2)	NP_001333719.1:n.*1664dup
NM_001346791.1:c.*1664dup (TSR2)	NP_001333720.1:n.*1664dup
NM_001346791.2:c.*1664dup (TSR2)	NP_001333720.1:n.*1664dup
NM_001346792.1:c.*1664dup (TSR2)	NP_001333721.1:n.*1664dup
NM_001346792.2:c.*1664dup (TSR2)	NP_001333721.1:n.*1664dup
NM_004463.2:c.2784dup (FGD1)	NP_004454.2:p.Pro929AlafsTer5
NM_058163.2:c.*1664dup (TSR2)	NP_477511.1:n.*1664dup
ENST00000375135.3:c.2784dup (FGD1)	ENSP00000364277.3:p.Pro929AlafsTer5