Canonical Allele Identifier: CA2395734558

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19131852_19131856delinsGCTGT , CM000684.2:g.19131852_19131856delinsGCTGT GRCh38
NC_000022.10:g.19119365_19119369delinsGCTGT , CM000684.1:g.19119365_19119369delinsGCTGT GRCh37
NC_000022.9:g.17499365_17499369delinsGCTGT NCBI36
NG_008320.1:g.17822_17826delinsACAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252137.11:c.*2340_*2344delinsACAGC (ESS2) MANE Select ENSP00000252137.6:n.*2340_*2344delinsACAGC
ENST00000399635.4:c.453_457delinsGCTGT (TSSK2) MANE Select ENSP00000382544.2:p.Lys151=
ENST00000252137.10:c.*2340_*2344delinsACAGC (ESS2) ENSP00000252137.6:n.*2340_*2344delinsACAGC
ENST00000399635.3:c.453_457delinsGCTGT (TSSK2) ENSP00000382544.2:p.Lys151=
NM_022719.2:c.*2340_*2344delinsACAGC (ESS2) NP_073210.1:n.*2340_*2344delinsACAGC
NM_053006.4:c.453_457delinsGCTGT (TSSK2) NP_443732.3:p.Lys151=
XM_005261282.3:c.*2340_*2344delinsACAGC (ESS2) XP_005261339.1:n.*2340_*2344delinsACAGC
XM_006724329.2:c.*2340_*2344delinsACAGC (ESS2) XP_006724392.1:n.*2340_*2344delinsACAGC
XM_006724330.2:c.*2340_*2344delinsACAGC (ESS2) XP_006724393.1:n.*2340_*2344delinsACAGC
XM_006724331.2:c.*2340_*2344delinsACAGC (ESS2) XP_006724394.1:n.*2340_*2344delinsACAGC
XR_937926.1:n.3729_3733delinsACAGC (ESS2)
NR_134304.1:n.3885_3889delinsACAGC (ESS2)
NM_022719.3:c.*2340_*2344delinsACAGC (ESS2) MANE Select NP_073210.1:n.*2340_*2344delinsACAGC
NM_053006.5:c.453_457delinsGCTGT (TSSK2) MANE Select NP_443732.3:p.Lys151=
NR_134304.2:n.3859_3863delinsACAGC (ESS2)