Canonical Allele Identifier: CA2395734899

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19132551_19132554delinsAAGT , CM000684.2:g.19132551_19132554delinsAAGT GRCh38
NC_000022.10:g.19120064_19120067delinsAAGT , CM000684.1:g.19120064_19120067delinsAAGT GRCh37
NC_000022.9:g.17500064_17500067delinsAAGT NCBI36
NG_008320.1:g.17124_17127delinsACTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252137.11:c.*1642_*1645delinsACTT (ESS2) MANE Select ENSP00000252137.6:n.*1642_*1645delinsACTT
ENST00000399635.4:c.*75_*78delinsAAGT (TSSK2) MANE Select ENSP00000382544.2:n.*75_*78delinsAAGT
ENST00000252137.10:c.*1642_*1645delinsACTT (ESS2) ENSP00000252137.6:n.*1642_*1645delinsACTT
ENST00000399635.3:c.*75_*78delinsAAGT (TSSK2) ENSP00000382544.2:n.*75_*78delinsAAGT
NM_022719.2:c.*1642_*1645delinsACTT (ESS2) NP_073210.1:n.*1642_*1645delinsACTT
NM_053006.4:c.*75_*78delinsAAGT (TSSK2) NP_443732.3:n.*75_*78delinsAAGT
XM_005261282.3:c.*1642_*1645delinsACTT (ESS2) XP_005261339.1:n.*1642_*1645delinsACTT
XM_006724329.2:c.*1642_*1645delinsACTT (ESS2) XP_006724392.1:n.*1642_*1645delinsACTT
XM_006724330.2:c.*1642_*1645delinsACTT (ESS2) XP_006724393.1:n.*1642_*1645delinsACTT
XM_006724331.2:c.*1642_*1645delinsACTT (ESS2) XP_006724394.1:n.*1642_*1645delinsACTT
XR_937926.1:n.3031_3034delinsACTT (ESS2)
NR_134304.1:n.3187_3190delinsACTT (ESS2)
NM_022719.3:c.*1642_*1645delinsACTT (ESS2) MANE Select NP_073210.1:n.*1642_*1645delinsACTT
NM_053006.5:c.*75_*78delinsAAGT (TSSK2) MANE Select NP_443732.3:n.*75_*78delinsAAGT
NR_134304.2:n.3161_3164delinsACTT (ESS2)