Canonical Allele Identifier: CA2395734906

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19132557_19132558delinsGC , CM000684.2:g.19132557_19132558delinsGC GRCh38
NC_000022.10:g.19120070_19120071delinsGC , CM000684.1:g.19120070_19120071delinsGC GRCh37
NC_000022.9:g.17500070_17500071delinsGC NCBI36
NG_008320.1:g.17120_17121delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252137.11:c.*1638_*1639delinsGC (ESS2) MANE Select ENSP00000252137.6:n.*1638_*1639delinsGC
ENST00000399635.4:c.*81_*82delinsGC (TSSK2) MANE Select ENSP00000382544.2:n.*81_*82delinsGC
ENST00000252137.10:c.*1638_*1639delinsGC (ESS2) ENSP00000252137.6:n.*1638_*1639delinsGC
ENST00000399635.3:c.*81_*82delinsGC (TSSK2) ENSP00000382544.2:n.*81_*82delinsGC
NM_022719.2:c.*1638_*1639delinsGC (ESS2) NP_073210.1:n.*1638_*1639delinsGC
NM_053006.4:c.*81_*82delinsGC (TSSK2) NP_443732.3:n.*81_*82delinsGC
XM_005261282.3:c.*1638_*1639delinsGC (ESS2) XP_005261339.1:n.*1638_*1639delinsGC
XM_006724329.2:c.*1638_*1639delinsGC (ESS2) XP_006724392.1:n.*1638_*1639delinsGC
XM_006724330.2:c.*1638_*1639delinsGC (ESS2) XP_006724393.1:n.*1638_*1639delinsGC
XM_006724331.2:c.*1638_*1639delinsGC (ESS2) XP_006724394.1:n.*1638_*1639delinsGC
XR_937926.1:n.3027_3028delinsGC (ESS2)
NR_134304.1:n.3183_3184delinsGC (ESS2)
NM_022719.3:c.*1638_*1639delinsGC (ESS2) MANE Select NP_073210.1:n.*1638_*1639delinsGC
NM_053006.5:c.*81_*82delinsGC (TSSK2) MANE Select NP_443732.3:n.*81_*82delinsGC
NR_134304.2:n.3157_3158delinsGC (ESS2)