Canonical Allele Identifier: CA2594899187
Gene: APTX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.33014372_33014373insAAATATCTAAAAAAAATCTACCAT , CM000671.2:g.33014372_33014373insAAATATCTAAAAAAAATCTACCAT GRCh38
NC_000009.11:g.33014370_33014371insAAATATCTAAAAAAAATCTACCAT , CM000671.1:g.33014370_33014371insAAATATCTAAAAAAAATCTACCAT GRCh37
NC_000009.10:g.33004370_33004371insAAATATCTAAAAAAAATCTACCAT NCBI36
NG_012821.2:g.15759_15760insATGGTAGATTTTTTTTAGATATTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000436040.7:c.-5+10650_-5+10651insATGGTAGATTTTTTTTAGATATTT ENSP00000400806.4:n.-5+10650_-5+10651insATGGTAGATTTTTTTTAGATA...
ENST00000460940.6:c.-5+10627_-5+10628insATGGTAGATTTTTTTTAGATATTT ENSP00000418311.1:n.-5+10627_-5+10628insATGGTAGATTTTTTTTAGATA...
ENST00000467331.6:c.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT ENSP00000418733.1:n.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATA...
ENST00000468275.6:c.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT ENSP00000420263.2:n.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATA...
ENST00000482687.6:c.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT ENSP00000419289.2:n.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATA...
ENST00000485479.6:c.-5+10627_-5+10628insATGGTAGATTTTTTTTAGATATTT ENSP00000418144.1:n.-5+10627_-5+10628insATGGTAGATTTTTTTTAGATA...
ENST00000495360.6:c.-5+10627_-5+10628insATGGTAGATTTTTTTTAGATATTT ENSP00000419623.2:n.-5+10627_-5+10628insATGGTAGATTTTTTTTAGATA...
ENST00000672281.1:n.193+3303_193+3304insATGGTAGATTTTTTTTAGATATTT
ENST00000673248.1:c.-127+10431_-127+10432insATGGTAGATTTTTTTTAGATATTT ENSP00000500601.1:n.-127+10431_-127+10432insATGGTAGATTTTTTTTA...
ENST00000673360.1:c.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT ENSP00000500360.1:n.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATA...
ENST00000673487.1:c.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT ENSP00000500943.1:n.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATA...
ENST00000460945.5:n.169+10627_169+10628insATGGTAGATTTTTTTTAGATATTT
ENST00000495360.5:c.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT ENSP00000419623.1:n.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATA...
XM_011517936.1:c.-264+10650_-264+10651insATGGTAGATTTTTTTTAGATATTT XP_011516238.1:n.-264+10650_-264+10651insATGGTAGATTTTTTTTAGAT...
XM_011517937.1:c.-222+10627_-222+10628insATGGTAGATTTTTTTTAGATATTT XP_011516239.1:n.-222+10627_-222+10628insATGGTAGATTTTTTTTAGAT...
XM_017014837.2:c.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT XP_016870326.1:n.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT...
XM_024447575.1:c.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT XP_024303343.1:n.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT...
XM_024447576.1:c.-5+10627_-5+10628insATGGTAGATTTTTTTTAGATATTT XP_024303344.1:n.-5+10627_-5+10628insATGGTAGATTTTTTTTAGATATTT...
XM_024447577.1:c.-5+10650_-5+10651insATGGTAGATTTTTTTTAGATATTT XP_024303345.1:n.-5+10650_-5+10651insATGGTAGATTTTTTTTAGATATTT...
XM_024447579.1:c.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT XP_024303347.1:n.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT...
XM_024447580.1:c.-5+10650_-5+10651insATGGTAGATTTTTTTTAGATATTT XP_024303348.1:n.-5+10650_-5+10651insATGGTAGATTTTTTTTAGATATTT...
XM_024447581.1:c.-264+10431_-264+10432insATGGTAGATTTTTTTTAGATATTT XP_024303349.1:n.-264+10431_-264+10432insATGGTAGATTTTTTTTAGAT...
XM_024447582.1:c.-264+10627_-264+10628insATGGTAGATTTTTTTTAGATATTT XP_024303350.1:n.-264+10627_-264+10628insATGGTAGATTTTTTTTAGAT...
NM_001368995.1:c.-5+10627_-5+10628insATGGTAGATTTTTTTTAGATATTT NP_001355924.1:n.-5+10627_-5+10628insATGGTAGATTTTTTTTAGATATTT...
NM_001368996.1:c.-5+10650_-5+10651insATGGTAGATTTTTTTTAGATATTT NP_001355925.1:n.-5+10650_-5+10651insATGGTAGATTTTTTTTAGATATTT...
NM_001368997.1:c.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT NP_001355926.1:n.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT...
NM_001368999.1:c.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT NP_001355928.1:n.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT...
NM_001369000.1:c.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT NP_001355929.1:n.-5+10431_-5+10432insATGGTAGATTTTTTTTAGATATTT...
NM_001369001.1:c.-5+10650_-5+10651insATGGTAGATTTTTTTTAGATATTT NP_001355930.1:n.-5+10650_-5+10651insATGGTAGATTTTTTTTAGATATTT...
NM_001369002.1:c.-264+10627_-264+10628insATGGTAGATTTTTTTTAGATATTT NP_001355931.1:n.-264+10627_-264+10628insATGGTAGATTTTTTTTAGAT...
NM_001369003.1:c.-264+10431_-264+10432insATGGTAGATTTTTTTTAGATATTT NP_001355932.1:n.-264+10431_-264+10432insATGGTAGATTTTTTTTAGAT...
NR_160922.1:n.317+10431_317+10432insATGGTAGATTTTTTTTAGATATTT
NR_160923.1:n.121+10627_121+10628insATGGTAGATTTTTTTTAGATATTT
NR_160924.1:n.121+10627_121+10628insATGGTAGATTTTTTTTAGATATTT
NR_160925.1:n.317+10431_317+10432insATGGTAGATTTTTTTTAGATATTT
NR_160926.1:n.121+10627_121+10628insATGGTAGATTTTTTTTAGATATTT
NR_160927.1:n.317+10431_317+10432insATGGTAGATTTTTTTTAGATATTT
NR_160928.1:n.317+10431_317+10432insATGGTAGATTTTTTTTAGATATTT
NR_160929.1:n.121+10627_121+10628insATGGTAGATTTTTTTTAGATATTT