Canonical Allele Identifier: CA2574905438

Gene: TPCN2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078981_69078982del , CM000673.2:g.69078981_69078982del	GRCh38
NC_000011.9:g.68846449_68846450del , CM000673.1:g.68846449_68846450del	GRCh37
NC_000011.8:g.68603025_68603026del	NCBI36
NG_016153.1:g.35100_35101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.357_358del	ENSP00000509200.1:p.Ser120GlnfsTer4
ENST00000294309.8:c.1500_1501del MANE Select	ENSP00000294309.3:p.Ser501GlnfsTer4
ENST00000635811.1:c.1500_1501del	ENSP00000490341.1:p.Ser501GlnfsTer4
ENST00000637084.1:c.357_358del	ENSP00000490615.1:p.Ser120GlnfsTer4
ENST00000637342.1:c.1500_1501del	ENSP00000490171.1:p.Ser501GlnfsTer4
ENST00000637504.1:c.1500_1501del	ENSP00000489759.1:p.Ser501GlnfsTer4
ENST00000294309.7:c.1500_1501del	ENSP00000294309.3:p.Ser501GlnfsTer4
ENST00000442692.2:n.1093_1094del
ENST00000535009.5:n.1309_1310del
ENST00000542467.1:c.1500_1501del	ENSP00000445551.1:p.Ser501GlnfsTer4
NM_139075.3:c.1500_1501del	NP_620714.2:p.Ser501GlnfsTer4
XM_005273824.2:c.1497_1498del	XP_005273881.1:p.Ser500GlnfsTer4
XM_005273826.2:c.1245_1246del	XP_005273883.1:p.Ser416GlnfsTer4
XM_005273827.2:c.1500_1501del	XP_005273884.1:p.Ser501GlnfsTer4
XM_005273828.2:c.1500_1501del	XP_005273885.1:p.Ser501GlnfsTer4
XM_005273830.2:c.807_808del	XP_005273887.1:p.Ser270GlnfsTer4
XM_005273831.2:c.807_808del	XP_005273888.1:p.Ser270GlnfsTer4
XM_005273832.2:c.777_778del	XP_005273889.1:p.Ser260GlnfsTer4
XM_006718453.2:c.1500_1501del	XP_006718516.1:p.Ser501GlnfsTer4
XM_006718454.2:c.1500_1501del	XP_006718517.1:p.Ser501GlnfsTer4
XM_006718456.2:c.1500_1501del	XP_006718519.1:p.Ser501GlnfsTer4
XM_011544802.1:c.1260_1261del	XP_011543104.1:p.Ser421GlnfsTer4
XM_011544803.1:c.1500_1501del	XP_011543105.1:p.Ser501GlnfsTer4
XM_011544804.1:c.1500_1501del	XP_011543106.1:p.Ser501GlnfsTer4
XM_011544805.1:c.1500_1501del	XP_011543107.1:p.Ser501GlnfsTer4
XM_011544806.1:c.1500_1501del	XP_011543108.1:p.Ser501GlnfsTer4
XM_011544807.1:c.804_805del	XP_011543109.1:p.Ser269GlnfsTer4
XM_011544808.1:c.669_670del	XP_011543110.1:p.Ser224GlnfsTer4
XR_247191.1:n.1601_1602del
XM_005273824.4:c.1497_1498del	XP_005273881.1:p.Ser500GlnfsTer4
XM_005273826.4:c.1245_1246del	XP_005273883.1:p.Ser416GlnfsTer4
XM_005273830.4:c.807_808del	XP_005273887.1:p.Ser270GlnfsTer4
XM_005273831.4:c.807_808del	XP_005273888.1:p.Ser270GlnfsTer4
XM_005273832.4:c.777_778del	XP_005273889.1:p.Ser260GlnfsTer4
XM_011544802.3:c.1260_1261del	XP_011543104.1:p.Ser421GlnfsTer4
XM_011544807.3:c.804_805del	XP_011543109.1:p.Ser269GlnfsTer4
XM_011544808.3:c.669_670del	XP_011543110.1:p.Ser224GlnfsTer4
XM_017017328.2:c.1331_1332del	XP_016872817.1:p.Pro444ArgfsTer?
XM_017017329.2:c.1328_1329del	XP_016872818.1:p.Pro443ArgfsTer?
XM_017017330.2:c.777_778del	XP_016872819.1:p.Ser260GlnfsTer4
XM_017017331.2:c.777_778del	XP_016872820.1:p.Ser260GlnfsTer4
XM_017017332.2:c.591_592del	XP_016872821.1:p.Ser198GlnfsTer4
XM_017017333.2:c.608_609del	XP_016872822.1:p.Pro203ArgfsTer?
XM_017017334.2:c.608_609del	XP_016872823.1:p.Pro203ArgfsTer?
XM_017017335.2:c.608_609del	XP_016872824.1:p.Pro203ArgfsTer?
XM_017017336.2:c.500_501del	XP_016872825.1:p.Pro167ArgfsTer?
XM_024448392.1:c.1290_1291del	XP_024304160.1:p.Ser431GlnfsTer4
XM_024448393.1:c.777_778del	XP_024304161.1:p.Ser260GlnfsTer4
XR_001747789.2:n.1432_1433del
XR_001747790.2:n.1432_1433del
XR_247191.3:n.1604_1605del
NM_139075.4:c.1500_1501del MANE Select	NP_620714.2:p.Ser501GlnfsTer4