Canonical Allele Identifier: CA086311

Linked Data

ClinVar Variation Id: 222816
dbSNP Id: rs749838192

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50524395_50524396insTGAGTCACTGCTGCATGCT , CM000684.2:g.50524395_50524396insTGAGTCACTGCTGCATGCT GRCh38
NC_000022.10:g.50962824_50962825insTGAGTCACTGCTGCATGCT , CM000684.1:g.50962824_50962825insTGAGTCACTGCTGCATGCT GRCh37
NC_000022.9:g.49309690_49309691insTGAGTCACTGCTGCATGCT NCBI36
NG_011860.1:g.10690_10691insAGCATGCAGCAGTGACTCA , LRG_727:g.10690_10691insAGCATGCAGCAGTGACTCA
NG_016235.1:g.7044_7045insAGCATGCAGCAGTGACTCA
NG_021419.1:g.21180_21181insTGAGTCACTGCTGCATGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000395693.8:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) MANE Select ENSP00000379046.4:p.Arg6GlnfsTer?
ENST00000420993.7:c.*1020_*1021insTGAGTCACTGCTGCATGCT (NCAPH2) MANE Select ENSP00000410088.2:n.*1020_*1021insTGAGTCACTGCTGCATGCT
ENST00000543927.6:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) ENSP00000444433.1:p.Arg6GlnfsTer?
ENST00000638598.2:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) ENSP00000491753.2:p.Arg6GlnfsTer?
ENST00000252785.3:c.16_17insAGCATGCAGCAGTGACTCA ENSP00000252785.3:p.Arg6GlnfsTer?
ENST00000395693.7:c.16_17insAGCATGCAGCAGTGACTCA ENSP00000379046.3:p.Arg6GlnfsTer?
ENST00000423348.1:c.16_17insAGCATGCAGCAGTGACTCA ENSP00000403570.1:p.Arg6GlnfsTer?
ENST00000439934.5:c.16_17insAGCATGCAGCAGTGACTCA ENSP00000415642.1:p.Arg6GlnfsTer?
ENST00000535425.5:c.16_17insAGCATGCAGCAGTGACTCA ENSP00000444242.1:p.Arg6GlnfsTer?
ENST00000543927.5:c.16_17insAGCATGCAGCAGTGACTCA ENSP00000444433.1:p.Arg6GlnfsTer?
NM_001169109.1:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) NP_001162580.1:p.Arg6GlnfsTer?
NM_001169110.1:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) NP_001162581.1:p.Arg6GlnfsTer?
NM_001169111.1:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) NP_001162582.1:p.Arg6GlnfsTer?
NM_001185011.1:c.*1020_*1021insTGAGTCACTGCTGCATGCT (NCAPH2) NP_001171940.1:n.*1020_*1021insTGAGTCACTGCTGCATGCT
NM_005138.2:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) NP_005129.2:p.Arg6GlnfsTer?
NM_152299.3:c.*1020_*1021insTGAGTCACTGCTGCATGCT (NCAPH2) NP_689512.2:n.*1020_*1021insTGAGTCACTGCTGCATGCT
XR_001755232.1:n.3048_3049insTGAGTCACTGCTGCATGCT (NCAPH2)
NM_152299.4:c.*1020_*1021insTGAGTCACTGCTGCATGCT (NCAPH2) MANE Select NP_689512.2:n.*1020_*1021insTGAGTCACTGCTGCATGCT
NM_001185011.2:c.*1020_*1021insTGAGTCACTGCTGCATGCT (NCAPH2) NP_001171940.1:n.*1020_*1021insTGAGTCACTGCTGCATGCT
NM_005138.3:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) MANE Select NP_005129.2:p.Arg6GlnfsTer?
NM_001169109.2:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) NP_001162580.1:p.Arg6GlnfsTer?
NM_001169111.2:c.16_17insAGCATGCAGCAGTGACTCA (SCO2) NP_001162582.1:p.Arg6GlnfsTer?