Canonical Allele Identifier: CA68802634

Gene: SUMF1

Linked Data

• dbSNP Id: rs1023222097
• gnomAD v2: 3-4459635-G-GTTGC
• gnomAD v3: 3-4417951-G-GTTGC
• gnomAD v4: 3-4417951-G-GTTGC
• MyVariant Identifiers: chr3:g.4459639delinsCTTGT (hg19) ; chr3:g.4459635_4459636insTTGC (hg19) ; chr3:g.4417955delinsCTTGT (hg38) ; chr3:g.4417951_4417952insTTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4417954_4417955insCTTG , CM000665.2:g.4417954_4417955insCTTG	GRCh38
NC_000003.11:g.4459638_4459639insCTTG , CM000665.1:g.4459638_4459639insCTTG	GRCh37
NC_000003.10:g.4434638_4434639insCTTG	NCBI36
NG_016225.1:g.54331_54332insGCAA
NG_016225.2:g.54331_54332insGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272902.10:c.725+58_725+59insGCAA MANE Select	ENSP00000272902.5:n.725+58_725+59insGCAA
ENST00000272902.9:c.725+58_725+59insGCAA	ENSP00000272902.5:n.725+58_725+59insGCAA
ENST00000383843.9:c.650+58_650+59insGCAA	ENSP00000373355.5:n.650+58_650+59insGCAA
ENST00000405420.2:c.725+58_725+59insGCAA	ENSP00000384977.2:n.725+58_725+59insGCAA
ENST00000448413.5:c.725+58_725+59insGCAA	ENSP00000404384.1:n.725+58_725+59insGCAA
ENST00000458465.6:c.445-6974_445-6973insGCAA	ENSP00000410060.2:n.445-6974_445-6973insGCAA
NM_001164674.1:c.650+58_650+59insGCAA	NP_001158146.1:n.650+58_650+59insGCAA
NM_001164675.1:c.725+58_725+59insGCAA	NP_001158147.1:n.725+58_725+59insGCAA
NM_182760.3:c.725+58_725+59insGCAA	NP_877437.2:n.725+58_725+59insGCAA
XM_011533623.1:c.725+58_725+59insGCAA	XP_011531925.1:n.725+58_725+59insGCAA
XM_011533624.1:c.725+58_725+59insGCAA	XP_011531926.1:n.725+58_725+59insGCAA
XM_011533625.1:c.725+58_725+59insGCAA	XP_011531927.1:n.725+58_725+59insGCAA
XM_011533626.1:c.725+58_725+59insGCAA	XP_011531928.1:n.725+58_725+59insGCAA
XM_011533624.3:c.725+58_725+59insGCAA	XP_011531926.1:n.725+58_725+59insGCAA
XM_011533625.3:c.725+58_725+59insGCAA	XP_011531927.1:n.725+58_725+59insGCAA
XM_011533626.3:c.725+58_725+59insGCAA	XP_011531928.1:n.725+58_725+59insGCAA
XM_017006252.2:c.725+58_725+59insGCAA	XP_016861741.1:n.725+58_725+59insGCAA
XM_017006253.1:c.650+58_650+59insGCAA	XP_016861742.1:n.650+58_650+59insGCAA
XM_017006254.2:c.725+58_725+59insGCAA	XP_016861743.1:n.725+58_725+59insGCAA
XM_017006255.2:c.725+58_725+59insGCAA	XP_016861744.1:n.725+58_725+59insGCAA
NM_182760.4:c.725+58_725+59insGCAA MANE Select	NP_877437.2:n.725+58_725+59insGCAA
NM_001164674.2:c.650+58_650+59insGCAA	NP_001158146.1:n.650+58_650+59insGCAA
NM_001164675.2:c.725+58_725+59insGCAA	NP_001158147.1:n.725+58_725+59insGCAA