Canonical Allele Identifier: CA1709308893
Gene: PSPH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.56029802_56029806delinsTTTGG , CM000669.2:g.56029802_56029806delinsTTTGG GRCh38
NC_000007.13:g.56097495_56097499delinsTTTGG , CM000669.1:g.56097495_56097499delinsTTTGG GRCh37
NC_000007.12:g.56064989_56064993delinsTTTGG NCBI36
NG_011473.1:g.26770_26774delinsCCAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000275605.8:c.-20+2123_-20+2127delinsCCAAA MANE Select ENSP00000275605.3:n.-20+2123_-20+2127delinsCCAAA
ENST00000275605.7:c.-20+2123_-20+2127delinsCCAAA ENSP00000275605.3:n.-20+2123_-20+2127delinsCCAAA
ENST00000395471.7:c.-20+2123_-20+2127delinsCCAAA ENSP00000378854.3:n.-20+2123_-20+2127delinsCCAAA
ENST00000413218.5:c.-20+2123_-20+2127delinsCCAAA ENSP00000404674.1:n.-20+2123_-20+2127delinsCCAAA
ENST00000416592.1:c.-20+2123_-20+2127delinsCCAAA ENSP00000405538.1:n.-20+2123_-20+2127delinsCCAAA
ENST00000419984.6:c.-20+2123_-20+2127delinsCCAAA ENSP00000399660.2:n.-20+2123_-20+2127delinsCCAAA
ENST00000421312.5:c.-20+2123_-20+2127delinsCCAAA ENSP00000390952.1:n.-20+2123_-20+2127delinsCCAAA
ENST00000421626.5:c.-20+2123_-20+2127delinsCCAAA ENSP00000398653.1:n.-20+2123_-20+2127delinsCCAAA
ENST00000424596.1:c.-20+2123_-20+2127delinsCCAAA ENSP00000390452.1:n.-20+2123_-20+2127delinsCCAAA
ENST00000427797.5:c.-20+2123_-20+2127delinsCCAAA ENSP00000403431.1:n.-20+2123_-20+2127delinsCCAAA
ENST00000437355.6:c.-19-8575_-19-8571delinsCCAAA ENSP00000401639.2:n.-19-8575_-19-8571delinsCCAAA
ENST00000459834.5:n.211+4155_211+4159delinsCCAAA
NM_004577.3:c.-20+2123_-20+2127delinsCCAAA NP_004568.2:n.-20+2123_-20+2127delinsCCAAA
XM_005271773.1:c.-20+2123_-20+2127delinsCCAAA XP_005271830.1:n.-20+2123_-20+2127delinsCCAAA
XM_005271774.1:c.-20+2123_-20+2127delinsCCAAA XP_005271831.1:n.-20+2123_-20+2127delinsCCAAA
XM_005271775.1:c.-20+2123_-20+2127delinsCCAAA XP_005271832.1:n.-20+2123_-20+2127delinsCCAAA
XM_005271776.1:c.-20+2123_-20+2127delinsCCAAA XP_005271833.1:n.-20+2123_-20+2127delinsCCAAA
XM_006715760.1:c.-20+2123_-20+2127delinsCCAAA XP_006715823.1:n.-20+2123_-20+2127delinsCCAAA
XM_006715761.1:c.-20+2123_-20+2127delinsCCAAA XP_006715824.1:n.-20+2123_-20+2127delinsCCAAA
XM_011515459.1:c.-20+2123_-20+2127delinsCCAAA XP_011513761.1:n.-20+2123_-20+2127delinsCCAAA
XM_011515460.1:c.-20+2123_-20+2127delinsCCAAA XP_011513762.1:n.-20+2123_-20+2127delinsCCAAA
XM_011515461.1:c.-20+2123_-20+2127delinsCCAAA XP_011513763.1:n.-20+2123_-20+2127delinsCCAAA
XM_011515462.1:c.-20+2123_-20+2127delinsCCAAA XP_011513764.1:n.-20+2123_-20+2127delinsCCAAA
XM_005271773.2:c.-20+2123_-20+2127delinsCCAAA XP_005271830.1:n.-20+2123_-20+2127delinsCCAAA
XM_005271774.2:c.-20+2123_-20+2127delinsCCAAA XP_005271831.1:n.-20+2123_-20+2127delinsCCAAA
XM_005271775.2:c.-20+2123_-20+2127delinsCCAAA XP_005271832.1:n.-20+2123_-20+2127delinsCCAAA
XM_005271776.2:c.-20+2123_-20+2127delinsCCAAA XP_005271833.1:n.-20+2123_-20+2127delinsCCAAA
XM_006715760.2:c.-20+2123_-20+2127delinsCCAAA XP_006715823.1:n.-20+2123_-20+2127delinsCCAAA
XM_006715761.2:c.-20+2123_-20+2127delinsCCAAA XP_006715824.1:n.-20+2123_-20+2127delinsCCAAA
XM_011515461.2:c.-20+2123_-20+2127delinsCCAAA XP_011513763.1:n.-20+2123_-20+2127delinsCCAAA
XM_017012466.2:c.-20+2123_-20+2127delinsCCAAA XP_016867955.1:n.-20+2123_-20+2127delinsCCAAA
XM_017012467.2:c.-20+2123_-20+2127delinsCCAAA XP_016867956.1:n.-20+2123_-20+2127delinsCCAAA
XM_017012468.2:c.-20+2123_-20+2127delinsCCAAA XP_016867957.1:n.-20+2123_-20+2127delinsCCAAA
XM_017012469.2:c.-20+2123_-20+2127delinsCCAAA XP_016867958.1:n.-20+2123_-20+2127delinsCCAAA
XR_002956470.1:n.778+2123_778+2127delinsCCAAA
NM_004577.4:c.-20+2123_-20+2127delinsCCAAA MANE Select NP_004568.2:n.-20+2123_-20+2127delinsCCAAA
NM_001370503.1:c.-20+2123_-20+2127delinsCCAAA NP_001357432.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370504.1:c.-20+2123_-20+2127delinsCCAAA NP_001357433.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370505.1:c.-20+2123_-20+2127delinsCCAAA NP_001357434.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370506.1:c.-20+2123_-20+2127delinsCCAAA NP_001357435.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370507.1:c.-20+2123_-20+2127delinsCCAAA NP_001357436.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370508.1:c.-20+2123_-20+2127delinsCCAAA NP_001357437.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370509.1:c.-20+2123_-20+2127delinsCCAAA NP_001357438.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370510.1:c.-20+2123_-20+2127delinsCCAAA NP_001357439.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370511.1:c.-20+2123_-20+2127delinsCCAAA NP_001357440.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370512.1:c.-20+2123_-20+2127delinsCCAAA NP_001357441.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370513.1:c.-20+2123_-20+2127delinsCCAAA NP_001357442.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370514.1:c.-20+2123_-20+2127delinsCCAAA NP_001357443.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370515.1:c.-20+2123_-20+2127delinsCCAAA NP_001357444.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370516.1:c.-20+2123_-20+2127delinsCCAAA NP_001357445.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370517.1:c.-20+968_-20+972delinsCCAAA NP_001357446.1:n.-20+968_-20+972delinsCCAAA
NM_001370518.1:c.-20+2123_-20+2127delinsCCAAA NP_001357447.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370519.1:c.-20+2123_-20+2127delinsCCAAA NP_001357448.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370520.1:c.-20+2123_-20+2127delinsCCAAA NP_001357449.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370521.1:c.-20+2123_-20+2127delinsCCAAA NP_001357450.1:n.-20+2123_-20+2127delinsCCAAA
NM_001370522.1:c.-20+2123_-20+2127delinsCCAAA NP_001357451.1:n.-20+2123_-20+2127delinsCCAAA
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