Canonical Allele Identifier: CA2580069165

Gene: SUMF1

Linked Data

• ClinVar Variation Id: 2029578
• ClinVar RCV Id: RCV002880893

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4418060dup , CM000665.2:g.4418060dup	GRCh38
NC_000003.11:g.4459744dup , CM000665.1:g.4459744dup	GRCh37
NC_000003.10:g.4434744dup	NCBI36
NG_016225.1:g.54223dup
NG_016225.2:g.54223dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272902.10:c.675dup MANE Select	ENSP00000272902.5:p.Pro226AlafsTer5
ENST00000272902.9:c.675dup	ENSP00000272902.5:p.Pro226AlafsTer5
ENST00000383843.9:c.600dup	ENSP00000373355.5:p.Pro201AlafsTer5
ENST00000405420.2:c.675dup	ENSP00000384977.2:p.Pro226AlafsTer5
ENST00000448413.5:c.675dup	ENSP00000404384.1:p.Pro226AlafsTer5
ENST00000458465.6:c.445-7082dup	ENSP00000410060.2:n.445-7082dup
NM_001164674.1:c.600dup	NP_001158146.1:p.Pro201AlafsTer5
NM_001164675.1:c.675dup	NP_001158147.1:p.Pro226AlafsTer5
NM_182760.3:c.675dup	NP_877437.2:p.Pro226AlafsTer5
XM_011533623.1:c.675dup	XP_011531925.1:p.Pro226AlafsTer5
XM_011533624.1:c.675dup	XP_011531926.1:p.Pro226AlafsTer5
XM_011533625.1:c.675dup	XP_011531927.1:p.Pro226AlafsTer5
XM_011533626.1:c.675dup	XP_011531928.1:p.Pro226AlafsTer5
XM_011533624.3:c.675dup	XP_011531926.1:p.Pro226AlafsTer5
XM_011533625.3:c.675dup	XP_011531927.1:p.Pro226AlafsTer5
XM_011533626.3:c.675dup	XP_011531928.1:p.Pro226AlafsTer5
XM_017006252.2:c.675dup	XP_016861741.1:p.Pro226AlafsTer5
XM_017006253.1:c.600dup	XP_016861742.1:p.Pro201AlafsTer5
XM_017006254.2:c.675dup	XP_016861743.1:p.Pro226AlafsTer5
XM_017006255.2:c.675dup	XP_016861744.1:p.Pro226AlafsTer5
NM_182760.4:c.675dup MANE Select	NP_877437.2:p.Pro226AlafsTer5
NM_001164674.2:c.600dup	NP_001158146.1:p.Pro201AlafsTer5
NM_001164675.2:c.675dup	NP_001158147.1:p.Pro226AlafsTer5