Canonical Allele Identifier: CA2697550632

Gene: SUMF1

Linked Data

• ClinVar Variation Id: 2767778
• ClinVar RCV Id: RCV003499330

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4418101dup , CM000665.2:g.4418101dup	GRCh38
NC_000003.11:g.4459785dup , CM000665.1:g.4459785dup	GRCh37
NC_000003.10:g.4434785dup	NCBI36
NG_016225.1:g.54183dup
NG_016225.2:g.54183dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272902.10:c.635dup MANE Select	ENSP00000272902.5:p.Asn212LysfsTer2
ENST00000272902.9:c.635dup	ENSP00000272902.5:p.Asn212LysfsTer2
ENST00000383843.9:c.560dup	ENSP00000373355.5:p.Asn187LysfsTer2
ENST00000405420.2:c.635dup	ENSP00000384977.2:p.Asn212LysfsTer2
ENST00000448413.5:c.635dup	ENSP00000404384.1:p.Asn212LysfsTer2
ENST00000458465.6:c.445-7122dup	ENSP00000410060.2:n.445-7122dup
NM_001164674.1:c.560dup	NP_001158146.1:p.Asn187LysfsTer2
NM_001164675.1:c.635dup	NP_001158147.1:p.Asn212LysfsTer2
NM_182760.3:c.635dup	NP_877437.2:p.Asn212LysfsTer2
XM_011533623.1:c.635dup	XP_011531925.1:p.Asn212LysfsTer2
XM_011533624.1:c.635dup	XP_011531926.1:p.Asn212LysfsTer2
XM_011533625.1:c.635dup	XP_011531927.1:p.Asn212LysfsTer2
XM_011533626.1:c.635dup	XP_011531928.1:p.Asn212LysfsTer2
XM_011533624.3:c.635dup	XP_011531926.1:p.Asn212LysfsTer2
XM_011533625.3:c.635dup	XP_011531927.1:p.Asn212LysfsTer2
XM_011533626.3:c.635dup	XP_011531928.1:p.Asn212LysfsTer2
XM_017006252.2:c.635dup	XP_016861741.1:p.Asn212LysfsTer2
XM_017006253.1:c.560dup	XP_016861742.1:p.Asn187LysfsTer2
XM_017006254.2:c.635dup	XP_016861743.1:p.Asn212LysfsTer2
XM_017006255.2:c.635dup	XP_016861744.1:p.Asn212LysfsTer2
NM_182760.4:c.635dup MANE Select	NP_877437.2:p.Asn212LysfsTer2
NM_001164674.2:c.560dup	NP_001158146.1:p.Asn187LysfsTer2
NM_001164675.2:c.635dup	NP_001158147.1:p.Asn212LysfsTer2