Canonical Allele Identifier: CA2591534130
Gene: SUMF1 HGNC NCBI

Linked Data

gnomAD v3: 3-4418327-TG-T
gnomAD v4: 3-4418327-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4418330del , CM000665.2:g.4418330del GRCh38
NC_000003.11:g.4460014del , CM000665.1:g.4460014del GRCh37
NC_000003.10:g.4435014del NCBI36
NG_016225.1:g.53955del
NG_016225.2:g.53955del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272902.10:c.603-196del MANE Select ENSP00000272902.5:n.603-196del
ENST00000272902.9:c.603-196del ENSP00000272902.5:n.603-196del
ENST00000383843.9:c.528-196del ENSP00000373355.5:n.528-196del
ENST00000405420.2:c.603-196del ENSP00000384977.2:n.603-196del
ENST00000448413.5:c.603-196del ENSP00000404384.1:n.603-196del
ENST00000458465.6:c.445-7350del ENSP00000410060.2:n.445-7350del
NM_001164674.1:c.528-196del NP_001158146.1:n.528-196del
NM_001164675.1:c.603-196del NP_001158147.1:n.603-196del
NM_182760.3:c.603-196del NP_877437.2:n.603-196del
XM_011533623.1:c.603-196del XP_011531925.1:n.603-196del
XM_011533624.1:c.603-196del XP_011531926.1:n.603-196del
XM_011533625.1:c.603-196del XP_011531927.1:n.603-196del
XM_011533626.1:c.603-196del XP_011531928.1:n.603-196del
XM_011533624.3:c.603-196del XP_011531926.1:n.603-196del
XM_011533625.3:c.603-196del XP_011531927.1:n.603-196del
XM_011533626.3:c.603-196del XP_011531928.1:n.603-196del
XM_017006252.2:c.603-196del XP_016861741.1:n.603-196del
XM_017006253.1:c.528-196del XP_016861742.1:n.528-196del
XM_017006254.2:c.603-196del XP_016861743.1:n.603-196del
XM_017006255.2:c.603-196del XP_016861744.1:n.603-196del
NM_182760.4:c.603-196del MANE Select NP_877437.2:n.603-196del
NM_001164674.2:c.528-196del NP_001158146.1:n.528-196del
NM_001164675.2:c.603-196del NP_001158147.1:n.603-196del