Canonical Allele Identifier: CA2410906315

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50524448_50524455delinsGAGCCAGA , CM000684.2:g.50524448_50524455delinsGAGCCAGA GRCh38
NC_000022.10:g.50962877_50962884delinsGAGCCAGA , CM000684.1:g.50962877_50962884delinsGAGCCAGA GRCh37
NC_000022.9:g.49309743_49309750delinsGAGCCAGA NCBI36
NG_011860.1:g.10631_10638delinsTCTGGCTC , LRG_727:g.10631_10638delinsTCTGGCTC
NG_016235.1:g.6985_6992delinsTCTGGCTC
NG_021419.1:g.21233_21240delinsGAGCCAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000395693.8:c.-13-31_-13-24delinsTCTGGCTC (SCO2) MANE Select ENSP00000379046.4:n.-13-31_-13-24delinsTCTGGCTC
ENST00000420993.7:c.*1073_*1080delinsGAGCCAGA (NCAPH2) MANE Select ENSP00000410088.2:n.*1073_*1080delinsGAGCCAGA
ENST00000543927.6:c.-13-31_-13-24delinsTCTGGCTC (SCO2) ENSP00000444433.1:n.-13-31_-13-24delinsTCTGGCTC
ENST00000638598.2:c.-13-31_-13-24delinsTCTGGCTC (SCO2) ENSP00000491753.2:n.-13-31_-13-24delinsTCTGGCTC
ENST00000252785.3:c.-13-31_-13-24delinsTCTGGCTC ENSP00000252785.3:n.-13-31_-13-24delinsTCTGGCTC
ENST00000395693.7:c.-13-31_-13-24delinsTCTGGCTC ENSP00000379046.3:n.-13-31_-13-24delinsTCTGGCTC
ENST00000423348.1:c.-13-31_-13-24delinsTCTGGCTC ENSP00000403570.1:n.-13-31_-13-24delinsTCTGGCTC
ENST00000439934.5:c.-13-31_-13-24delinsTCTGGCTC ENSP00000415642.1:n.-13-31_-13-24delinsTCTGGCTC
ENST00000535425.5:c.-13-31_-13-24delinsTCTGGCTC ENSP00000444242.1:n.-13-31_-13-24delinsTCTGGCTC
ENST00000543927.5:c.-13-31_-13-24delinsTCTGGCTC ENSP00000444433.1:n.-13-31_-13-24delinsTCTGGCTC
NM_001169109.1:c.-13-31_-13-24delinsTCTGGCTC (SCO2) NP_001162580.1:n.-13-31_-13-24delinsTCTGGCTC
NM_001169110.1:c.-13-31_-13-24delinsTCTGGCTC (SCO2) NP_001162581.1:n.-13-31_-13-24delinsTCTGGCTC
NM_001169111.1:c.-13-31_-13-24delinsTCTGGCTC (SCO2) NP_001162582.1:n.-13-31_-13-24delinsTCTGGCTC
NM_001185011.1:c.*1073_*1080delinsGAGCCAGA (NCAPH2) NP_001171940.1:n.*1073_*1080delinsGAGCCAGA
NM_005138.2:c.-13-31_-13-24delinsTCTGGCTC (SCO2) NP_005129.2:n.-13-31_-13-24delinsTCTGGCTC
NM_152299.3:c.*1073_*1080delinsGAGCCAGA (NCAPH2) NP_689512.2:n.*1073_*1080delinsGAGCCAGA
XR_001755232.1:n.3101_3108delinsGAGCCAGA (NCAPH2)
NM_152299.4:c.*1073_*1080delinsGAGCCAGA (NCAPH2) MANE Select NP_689512.2:n.*1073_*1080delinsGAGCCAGA
NM_001185011.2:c.*1073_*1080delinsGAGCCAGA (NCAPH2) NP_001171940.1:n.*1073_*1080delinsGAGCCAGA
NM_005138.3:c.-13-31_-13-24delinsTCTGGCTC (SCO2) MANE Select NP_005129.2:n.-13-31_-13-24delinsTCTGGCTC
NM_001169109.2:c.-13-31_-13-24delinsTCTGGCTC (SCO2) NP_001162580.1:n.-13-31_-13-24delinsTCTGGCTC
NM_001169111.2:c.-13-31_-13-24delinsTCTGGCTC (SCO2) NP_001162582.1:n.-13-31_-13-24delinsTCTGGCTC