Canonical Allele Identifier: CA2792562466
Gene: TPCN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69078609_69078610del , CM000673.2:g.69078609_69078610del GRCh38
NC_000011.9:g.68846077_68846078del , CM000673.1:g.68846077_68846078del GRCh37
NC_000011.8:g.68602653_68602654del NCBI36
NG_016153.1:g.34728_34729del

Transcript Alleles

HGVS Amino-acid Change
ENST00000692585.1:c.207+8_207+9del ENSP00000509200.1:n.207+8_207+9del
ENST00000294309.8:c.1350+8_1350+9del MANE Select ENSP00000294309.3:n.1350+8_1350+9del
ENST00000635811.1:c.1350+8_1350+9del ENSP00000490341.1:n.1350+8_1350+9del
ENST00000637084.1:c.207+8_207+9del ENSP00000490615.1:n.207+8_207+9del
ENST00000637342.1:c.1350+8_1350+9del ENSP00000490171.1:n.1350+8_1350+9del
ENST00000637504.1:c.1350+8_1350+9del ENSP00000489759.1:n.1350+8_1350+9del
ENST00000294309.7:c.1350+8_1350+9del ENSP00000294309.3:n.1350+8_1350+9del
ENST00000442692.2:n.943+8_943+9del
ENST00000535009.5:n.1159+8_1159+9del
ENST00000542467.1:c.1350+8_1350+9del ENSP00000445551.1:n.1350+8_1350+9del
NM_139075.3:c.1350+8_1350+9del NP_620714.2:n.1350+8_1350+9del
XM_005273824.2:c.1347+8_1347+9del XP_005273881.1:n.1347+8_1347+9del
XM_005273826.2:c.1095+8_1095+9del XP_005273883.1:n.1095+8_1095+9del
XM_005273827.2:c.1350+8_1350+9del XP_005273884.1:n.1350+8_1350+9del
XM_005273828.2:c.1350+8_1350+9del XP_005273885.1:n.1350+8_1350+9del
XM_005273830.2:c.657+8_657+9del XP_005273887.1:n.657+8_657+9del
XM_005273831.2:c.657+8_657+9del XP_005273888.1:n.657+8_657+9del
XM_005273832.2:c.627+8_627+9del XP_005273889.1:n.627+8_627+9del
XM_006718453.2:c.1350+8_1350+9del XP_006718516.1:n.1350+8_1350+9del
XM_006718454.2:c.1350+8_1350+9del XP_006718517.1:n.1350+8_1350+9del
XM_006718456.2:c.1350+8_1350+9del XP_006718519.1:n.1350+8_1350+9del
XM_011544802.1:c.1110+8_1110+9del XP_011543104.1:n.1110+8_1110+9del
XM_011544803.1:c.1350+8_1350+9del XP_011543105.1:n.1350+8_1350+9del
XM_011544804.1:c.1350+8_1350+9del XP_011543106.1:n.1350+8_1350+9del
XM_011544805.1:c.1350+8_1350+9del XP_011543107.1:n.1350+8_1350+9del
XM_011544806.1:c.1350+8_1350+9del XP_011543108.1:n.1350+8_1350+9del
XM_011544807.1:c.654+8_654+9del XP_011543109.1:n.654+8_654+9del
XM_011544808.1:c.519+8_519+9del XP_011543110.1:n.519+8_519+9del
XR_247191.1:n.1451+8_1451+9del
XM_005273824.4:c.1347+8_1347+9del XP_005273881.1:n.1347+8_1347+9del
XM_005273826.4:c.1095+8_1095+9del XP_005273883.1:n.1095+8_1095+9del
XM_005273830.4:c.657+8_657+9del XP_005273887.1:n.657+8_657+9del
XM_005273831.4:c.657+8_657+9del XP_005273888.1:n.657+8_657+9del
XM_005273832.4:c.627+8_627+9del XP_005273889.1:n.627+8_627+9del
XM_011544802.3:c.1110+8_1110+9del XP_011543104.1:n.1110+8_1110+9del
XM_011544807.3:c.654+8_654+9del XP_011543109.1:n.654+8_654+9del
XM_011544808.3:c.519+8_519+9del XP_011543110.1:n.519+8_519+9del
XM_017017328.2:c.1181+8_1181+9del XP_016872817.1:n.1181+8_1181+9del
XM_017017329.2:c.1178+8_1178+9del XP_016872818.1:n.1178+8_1178+9del
XM_017017330.2:c.627+8_627+9del XP_016872819.1:n.627+8_627+9del
XM_017017331.2:c.627+8_627+9del XP_016872820.1:n.627+8_627+9del
XM_017017332.2:c.441+8_441+9del XP_016872821.1:n.441+8_441+9del
XM_017017333.2:c.458+8_458+9del XP_016872822.1:n.458+8_458+9del
XM_017017334.2:c.458+8_458+9del XP_016872823.1:n.458+8_458+9del
XM_017017335.2:c.458+8_458+9del XP_016872824.1:n.458+8_458+9del
XM_017017336.2:c.350+8_350+9del XP_016872825.1:n.350+8_350+9del
XM_024448392.1:c.1140+8_1140+9del XP_024304160.1:n.1140+8_1140+9del
XM_024448393.1:c.627+8_627+9del XP_024304161.1:n.627+8_627+9del
XR_001747789.2:n.1282+8_1282+9del
XR_001747790.2:n.1282+8_1282+9del
XR_247191.3:n.1454+8_1454+9del
NM_139075.4:c.1350+8_1350+9del MANE Select NP_620714.2:n.1350+8_1350+9del