Canonical Allele Identifier: CA2697550631

Gene: SUMF1

Linked Data

• ClinVar Variation Id: 2752295
• ClinVar RCV Id: RCV003498365

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4417993del , CM000665.2:g.4417993del	GRCh38
NC_000003.11:g.4459677del , CM000665.1:g.4459677del	GRCh37
NC_000003.10:g.4434677del	NCBI36
NG_016225.1:g.54290del
NG_016225.2:g.54290del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272902.10:c.725+17del MANE Select	ENSP00000272902.5:n.725+17del
ENST00000272902.9:c.725+17del	ENSP00000272902.5:n.725+17del
ENST00000383843.9:c.650+17del	ENSP00000373355.5:n.650+17del
ENST00000405420.2:c.725+17del	ENSP00000384977.2:n.725+17del
ENST00000448413.5:c.725+17del	ENSP00000404384.1:n.725+17del
ENST00000458465.6:c.445-7015del	ENSP00000410060.2:n.445-7015del
NM_001164674.1:c.650+17del	NP_001158146.1:n.650+17del
NM_001164675.1:c.725+17del	NP_001158147.1:n.725+17del
NM_182760.3:c.725+17del	NP_877437.2:n.725+17del
XM_011533623.1:c.725+17del	XP_011531925.1:n.725+17del
XM_011533624.1:c.725+17del	XP_011531926.1:n.725+17del
XM_011533625.1:c.725+17del	XP_011531927.1:n.725+17del
XM_011533626.1:c.725+17del	XP_011531928.1:n.725+17del
XM_011533624.3:c.725+17del	XP_011531926.1:n.725+17del
XM_011533625.3:c.725+17del	XP_011531927.1:n.725+17del
XM_011533626.3:c.725+17del	XP_011531928.1:n.725+17del
XM_017006252.2:c.725+17del	XP_016861741.1:n.725+17del
XM_017006253.1:c.650+17del	XP_016861742.1:n.650+17del
XM_017006254.2:c.725+17del	XP_016861743.1:n.725+17del
XM_017006255.2:c.725+17del	XP_016861744.1:n.725+17del
NM_182760.4:c.725+17del MANE Select	NP_877437.2:n.725+17del
NM_001164674.2:c.650+17del	NP_001158146.1:n.650+17del
NM_001164675.2:c.725+17del	NP_001158147.1:n.725+17del