Canonical Allele Identifier: CA8393676
Gene: SCO1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418798
ClinVar RCV Id: RCV000485612 RCV001536014
dbSNP Id: rs770131276
ExAC: 17:10600563 AG / A
gnomAD v2: 17-10600563-AG-A
gnomAD v3: 17-10697246-AG-A
gnomAD v4: 17-10697246-AG-A
MyVariant Identifiers: chr17:g.10600564del (hg19) chr17:g.10697247del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10697250del , CM000679.2:g.10697250del GRCh38
NC_000017.10:g.10600567del , CM000679.1:g.10600567del GRCh37
NC_000017.9:g.10541292del NCBI36
NG_008228.2:g.5322del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255390.10:c.261del MANE Select ENSP00000255390.5:p.Ser88ArgfsTer11
ENST00000577335.2:c.261del ENSP00000464032.1:p.Ser88ArgfsTer12
ENST00000255390.9:c.261del ENSP00000255390.5:p.Ser88ArgfsTer11
ENST00000577335.1:c.261del ENSP00000464032.1:p.Ser88ArgfsTer12
ENST00000577427.1:c.261del ENSP00000463387.1:p.Ser88ArgfsTer11
ENST00000579396.1:n.281del
ENST00000582053.1:n.436+693del
NM_004589.3:c.261del NP_004580.1:p.Ser88ArgfsTer11
XM_005256751.2:c.-76del XP_005256808.1:n.-76del
XM_005256751.4:c.-76del XP_005256808.1:n.-76del
NM_004589.4:c.261del MANE Select NP_004580.1:p.Ser88ArgfsTer11
Search 100 bp 5'
Search 100 bp 3'