Canonical Allele Identifier: CA192412389
Gene: APTX HGNC NCBI

Linked Data

dbSNP Id: rs200036355

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.33014336_33014337dup , CM000671.2:g.33014336_33014337dup GRCh38
NC_000009.11:g.33014334_33014335dup , CM000671.1:g.33014334_33014335dup GRCh37
NC_000009.10:g.33004334_33004335dup NCBI36
NG_012821.2:g.15797_15798dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000436040.7:c.-5+10688_-5+10689dup ENSP00000400806.4:n.-5+10688_-5+10689dup
ENST00000460940.6:c.-5+10665_-5+10666dup ENSP00000418311.1:n.-5+10665_-5+10666dup
ENST00000467331.6:c.-5+10469_-5+10470dup ENSP00000418733.1:n.-5+10469_-5+10470dup
ENST00000468275.6:c.-5+10469_-5+10470dup ENSP00000420263.2:n.-5+10469_-5+10470dup
ENST00000482687.6:c.-5+10469_-5+10470dup ENSP00000419289.2:n.-5+10469_-5+10470dup
ENST00000485479.6:c.-5+10665_-5+10666dup ENSP00000418144.1:n.-5+10665_-5+10666dup
ENST00000495360.6:c.-5+10665_-5+10666dup ENSP00000419623.2:n.-5+10665_-5+10666dup
ENST00000672281.1:n.193+3341_193+3342dup
ENST00000673248.1:c.-127+10469_-127+10470dup ENSP00000500601.1:n.-127+10469_-127+10470dup
ENST00000673360.1:c.-5+10469_-5+10470dup ENSP00000500360.1:n.-5+10469_-5+10470dup
ENST00000673487.1:c.-5+10469_-5+10470dup ENSP00000500943.1:n.-5+10469_-5+10470dup
ENST00000460945.5:n.169+10665_169+10666dup
ENST00000495360.5:c.-5+10469_-5+10470dup ENSP00000419623.1:n.-5+10469_-5+10470dup
XM_011517936.1:c.-264+10688_-264+10689dup XP_011516238.1:n.-264+10688_-264+10689dup
XM_011517937.1:c.-222+10665_-222+10666dup XP_011516239.1:n.-222+10665_-222+10666dup
XM_017014837.2:c.-5+10469_-5+10470dup XP_016870326.1:n.-5+10469_-5+10470dup
XM_024447575.1:c.-5+10469_-5+10470dup XP_024303343.1:n.-5+10469_-5+10470dup
XM_024447576.1:c.-5+10665_-5+10666dup XP_024303344.1:n.-5+10665_-5+10666dup
XM_024447577.1:c.-5+10688_-5+10689dup XP_024303345.1:n.-5+10688_-5+10689dup
XM_024447579.1:c.-5+10469_-5+10470dup XP_024303347.1:n.-5+10469_-5+10470dup
XM_024447580.1:c.-5+10688_-5+10689dup XP_024303348.1:n.-5+10688_-5+10689dup
XM_024447581.1:c.-264+10469_-264+10470dup XP_024303349.1:n.-264+10469_-264+10470dup
XM_024447582.1:c.-264+10665_-264+10666dup XP_024303350.1:n.-264+10665_-264+10666dup
NM_001368995.1:c.-5+10665_-5+10666dup NP_001355924.1:n.-5+10665_-5+10666dup
NM_001368996.1:c.-5+10688_-5+10689dup NP_001355925.1:n.-5+10688_-5+10689dup
NM_001368997.1:c.-5+10469_-5+10470dup NP_001355926.1:n.-5+10469_-5+10470dup
NM_001368999.1:c.-5+10469_-5+10470dup NP_001355928.1:n.-5+10469_-5+10470dup
NM_001369000.1:c.-5+10469_-5+10470dup NP_001355929.1:n.-5+10469_-5+10470dup
NM_001369001.1:c.-5+10688_-5+10689dup NP_001355930.1:n.-5+10688_-5+10689dup
NM_001369002.1:c.-264+10665_-264+10666dup NP_001355931.1:n.-264+10665_-264+10666dup
NM_001369003.1:c.-264+10469_-264+10470dup NP_001355932.1:n.-264+10469_-264+10470dup
NR_160922.1:n.317+10469_317+10470dup
NR_160923.1:n.121+10665_121+10666dup
NR_160924.1:n.121+10665_121+10666dup
NR_160925.1:n.317+10469_317+10470dup
NR_160926.1:n.121+10665_121+10666dup
NR_160927.1:n.317+10469_317+10470dup
NR_160928.1:n.317+10469_317+10470dup
NR_160929.1:n.121+10665_121+10666dup