Canonical Allele Identifier: CA10321253

Linked Data

ClinVar Variation Id: 1208507
ClinVar RCV Id: RCV001576864
dbSNP Id: rs757005556

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50524168_50524170del , CM000684.2:g.50524168_50524170del GRCh38
NC_000022.10:g.50962597_50962599del , CM000684.1:g.50962597_50962599del GRCh37
NC_000022.9:g.49309463_49309465del NCBI36
NG_011860.1:g.10918_10920del , LRG_727:g.10918_10920del
NG_016235.1:g.7272_7274del
NG_021419.1:g.20953_20955del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395693.8:c.244_246del (SCO2) MANE Select ENSP00000379046.4:p.Lys82del
ENST00000420993.7:c.*793_*795del (NCAPH2) MANE Select ENSP00000410088.2:n.*793_*795del
ENST00000543927.6:c.244_246del (SCO2) ENSP00000444433.1:p.Lys82del
ENST00000638598.2:c.244_246del (SCO2) ENSP00000491753.2:p.Lys82del
ENST00000252785.3:c.244_246del ENSP00000252785.3:p.Lys82del
ENST00000395693.7:c.244_246del ENSP00000379046.3:p.Lys82del
ENST00000423348.1:c.244_246del ENSP00000403570.1:p.Lys82del
ENST00000439934.5:c.244_246del ENSP00000415642.1:p.Lys82del
ENST00000535425.5:c.244_246del ENSP00000444242.1:p.Lys82del
ENST00000543927.5:c.244_246del ENSP00000444433.1:p.Lys82del
NM_001169109.1:c.244_246del (SCO2) NP_001162580.1:p.Lys82del
NM_001169110.1:c.244_246del (SCO2) NP_001162581.1:p.Lys82del
NM_001169111.1:c.244_246del (SCO2) NP_001162582.1:p.Lys82del
NM_001185011.1:c.*793_*795del (NCAPH2) NP_001171940.1:n.*793_*795del
NM_005138.2:c.244_246del (SCO2) NP_005129.2:p.Lys82del
NM_152299.3:c.*793_*795del (NCAPH2) NP_689512.2:n.*793_*795del
XR_001755232.1:n.2821_2823del (NCAPH2)
NM_152299.4:c.*793_*795del (NCAPH2) MANE Select NP_689512.2:n.*793_*795del
NM_001185011.2:c.*793_*795del (NCAPH2) NP_001171940.1:n.*793_*795del
NM_005138.3:c.244_246del (SCO2) MANE Select NP_005129.2:p.Lys82del
NM_001169109.2:c.244_246del (SCO2) NP_001162580.1:p.Lys82del
NM_001169111.2:c.244_246del (SCO2) NP_001162582.1:p.Lys82del