Canonical Allele Identifier: CA2614758789

Gene: TPCN2

Linked Data

• gnomAD v4: 11-69078959-T-TGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078960_69078962dup , CM000673.2:g.69078960_69078962dup	GRCh38
NC_000011.9:g.68846428_68846430dup , CM000673.1:g.68846428_68846430dup	GRCh37
NC_000011.8:g.68603004_68603006dup	NCBI36
NG_016153.1:g.35079_35081dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.336_338dup	ENSP00000509200.1:p.Arg113_Gly114insArg
ENST00000294309.8:c.1479_1481dup MANE Select	ENSP00000294309.3:p.Arg494_Gly495insArg
ENST00000635811.1:c.1479_1481dup	ENSP00000490341.1:p.Arg494_Gly495insArg
ENST00000637084.1:c.336_338dup	ENSP00000490615.1:p.Arg113_Gly114insArg
ENST00000637342.1:c.1479_1481dup	ENSP00000490171.1:p.Arg494_Gly495insArg
ENST00000637504.1:c.1479_1481dup	ENSP00000489759.1:p.Arg494_Gly495insArg
ENST00000294309.7:c.1479_1481dup	ENSP00000294309.3:p.Arg494_Gly495insArg
ENST00000442692.2:n.1072_1074dup
ENST00000535009.5:n.1288_1290dup
ENST00000542467.1:c.1479_1481dup	ENSP00000445551.1:p.Arg494_Gly495insArg
NM_139075.3:c.1479_1481dup	NP_620714.2:p.Arg494_Gly495insArg
XM_005273824.2:c.1476_1478dup	XP_005273881.1:p.Arg493_Gly494insArg
XM_005273826.2:c.1224_1226dup	XP_005273883.1:p.Arg409_Gly410insArg
XM_005273827.2:c.1479_1481dup	XP_005273884.1:p.Arg494_Gly495insArg
XM_005273828.2:c.1479_1481dup	XP_005273885.1:p.Arg494_Gly495insArg
XM_005273830.2:c.786_788dup	XP_005273887.1:p.Arg263_Gly264insArg
XM_005273831.2:c.786_788dup	XP_005273888.1:p.Arg263_Gly264insArg
XM_005273832.2:c.756_758dup	XP_005273889.1:p.Arg253_Gly254insArg
XM_006718453.2:c.1479_1481dup	XP_006718516.1:p.Arg494_Gly495insArg
XM_006718454.2:c.1479_1481dup	XP_006718517.1:p.Arg494_Gly495insArg
XM_006718456.2:c.1479_1481dup	XP_006718519.1:p.Arg494_Gly495insArg
XM_011544802.1:c.1239_1241dup	XP_011543104.1:p.Arg414_Gly415insArg
XM_011544803.1:c.1479_1481dup	XP_011543105.1:p.Arg494_Gly495insArg
XM_011544804.1:c.1479_1481dup	XP_011543106.1:p.Arg494_Gly495insArg
XM_011544805.1:c.1479_1481dup	XP_011543107.1:p.Arg494_Gly495insArg
XM_011544806.1:c.1479_1481dup	XP_011543108.1:p.Arg494_Gly495insArg
XM_011544807.1:c.783_785dup	XP_011543109.1:p.Arg262_Gly263insArg
XM_011544808.1:c.648_650dup	XP_011543110.1:p.Arg217_Gly218insArg
XR_247191.1:n.1580_1582dup
XM_005273824.4:c.1476_1478dup	XP_005273881.1:p.Arg493_Gly494insArg
XM_005273826.4:c.1224_1226dup	XP_005273883.1:p.Arg409_Gly410insArg
XM_005273830.4:c.786_788dup	XP_005273887.1:p.Arg263_Gly264insArg
XM_005273831.4:c.786_788dup	XP_005273888.1:p.Arg263_Gly264insArg
XM_005273832.4:c.756_758dup	XP_005273889.1:p.Arg253_Gly254insArg
XM_011544802.3:c.1239_1241dup	XP_011543104.1:p.Arg414_Gly415insArg
XM_011544807.3:c.783_785dup	XP_011543109.1:p.Arg262_Gly263insArg
XM_011544808.3:c.648_650dup	XP_011543110.1:p.Arg217_Gly218insArg
XM_017017328.2:c.1310_1312dup	XP_016872817.1:p.Cys437_Glu438insGly
XM_017017329.2:c.1307_1309dup	XP_016872818.1:p.Cys436_Glu437insGly
XM_017017330.2:c.756_758dup	XP_016872819.1:p.Arg253_Gly254insArg
XM_017017331.2:c.756_758dup	XP_016872820.1:p.Arg253_Gly254insArg
XM_017017332.2:c.570_572dup	XP_016872821.1:p.Arg191_Gly192insArg
XM_017017333.2:c.587_589dup	XP_016872822.1:p.Cys196_Glu197insGly
XM_017017334.2:c.587_589dup	XP_016872823.1:p.Cys196_Glu197insGly
XM_017017335.2:c.587_589dup	XP_016872824.1:p.Cys196_Glu197insGly
XM_017017336.2:c.479_481dup	XP_016872825.1:p.Cys160_Glu161insGly
XM_024448392.1:c.1269_1271dup	XP_024304160.1:p.Arg424_Gly425insArg
XM_024448393.1:c.756_758dup	XP_024304161.1:p.Arg253_Gly254insArg
XR_001747789.2:n.1411_1413dup
XR_001747790.2:n.1411_1413dup
XR_247191.3:n.1583_1585dup
NM_139075.4:c.1479_1481dup MANE Select	NP_620714.2:p.Arg494_Gly495insArg