Canonical Allele Identifier: CA2230486

Gene: SUMF1

Linked Data

• dbSNP Id: rs781453236
• ExAC: 3:4459694 C / CT
• gnomAD v2: 3-4459694-C-CT
• gnomAD v4: 3-4418010-C-CT
• MyVariant Identifiers: chr3:g.4459694_4459695insT (hg19) ; chr3:g.4418010_4418011insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4418011dup , CM000665.2:g.4418011dup	GRCh38
NC_000003.11:g.4459695dup , CM000665.1:g.4459695dup	GRCh37
NC_000003.10:g.4434695dup	NCBI36
NG_016225.1:g.54272dup
NG_016225.2:g.54272dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272902.10:c.724dup MANE Select	ENSP00000272902.5:p.Arg242LysfsTer?
ENST00000272902.9:c.724dup	ENSP00000272902.5:p.Arg242LysfsTer?
ENST00000383843.9:c.649dup	ENSP00000373355.5:p.Arg217LysfsTer?
ENST00000405420.2:c.724dup	ENSP00000384977.2:p.Arg242LysfsTer?
ENST00000448413.5:c.724dup	ENSP00000404384.1:p.Arg242LysfsTer?
ENST00000458465.6:c.445-7033dup	ENSP00000410060.2:n.445-7033dup
NM_001164674.1:c.649dup	NP_001158146.1:p.Arg217LysfsTer?
NM_001164675.1:c.724dup	NP_001158147.1:p.Arg242LysfsTer?
NM_182760.3:c.724dup	NP_877437.2:p.Arg242LysfsTer?
XM_011533623.1:c.724dup	XP_011531925.1:p.Arg242LysfsTer?
XM_011533624.1:c.724dup	XP_011531926.1:p.Arg242LysfsTer?
XM_011533625.1:c.724dup	XP_011531927.1:p.Arg242LysfsTer?
XM_011533626.1:c.724dup	XP_011531928.1:p.Arg242LysfsTer?
XM_011533624.3:c.724dup	XP_011531926.1:p.Arg242LysfsTer?
XM_011533625.3:c.724dup	XP_011531927.1:p.Arg242LysfsTer?
XM_011533626.3:c.724dup	XP_011531928.1:p.Arg242LysfsTer?
XM_017006252.2:c.724dup	XP_016861741.1:p.Arg242LysfsTer?
XM_017006253.1:c.649dup	XP_016861742.1:p.Arg217LysfsTer?
XM_017006254.2:c.724dup	XP_016861743.1:p.Arg242LysfsTer?
XM_017006255.2:c.724dup	XP_016861744.1:p.Arg242LysfsTer?
NM_182760.4:c.724dup MANE Select	NP_877437.2:p.Arg242LysfsTer?
NM_001164674.2:c.649dup	NP_001158146.1:p.Arg217LysfsTer?
NM_001164675.2:c.724dup	NP_001158147.1:p.Arg242LysfsTer?