Canonical Allele Identifier: CA2614758510

Gene: TPCN2

Linked Data

• gnomAD v4: 11-69078759-T-TGTGAGCATTTTTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078760_69078761insTGAGCATTTTTGGG , CM000673.2:g.69078760_69078761insTGAGCATTTTTGGG	GRCh38
NC_000011.9:g.68846228_68846229insTGAGCATTTTTGGG , CM000673.1:g.68846228_68846229insTGAGCATTTTTGGG	GRCh37
NC_000011.8:g.68602804_68602805insTGAGCATTTTTGGG	NCBI36
NG_016153.1:g.34879_34880insTGAGCATTTTTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.234_235insTGAGCATTTTTGGG	ENSP00000509200.1:p.Leu79Ter
ENST00000294309.8:c.1377_1378insTGAGCATTTTTGGG MANE Select	ENSP00000294309.3:p.Leu460Ter
ENST00000635811.1:c.1377_1378insTGAGCATTTTTGGG	ENSP00000490341.1:p.Leu460Ter
ENST00000637084.1:c.234_235insTGAGCATTTTTGGG	ENSP00000490615.1:p.Leu79Ter
ENST00000637342.1:c.1377_1378insTGAGCATTTTTGGG	ENSP00000490171.1:p.Leu460Ter
ENST00000637504.1:c.1377_1378insTGAGCATTTTTGGG	ENSP00000489759.1:p.Leu460Ter
ENST00000294309.7:c.1377_1378insTGAGCATTTTTGGG	ENSP00000294309.3:p.Leu460Ter
ENST00000442692.2:n.970_971insTGAGCATTTTTGGG
ENST00000535009.5:n.1186_1187insTGAGCATTTTTGGG
ENST00000542467.1:c.1377_1378insTGAGCATTTTTGGG	ENSP00000445551.1:p.Leu460Ter
NM_139075.3:c.1377_1378insTGAGCATTTTTGGG	NP_620714.2:p.Leu460Ter
XM_005273824.2:c.1374_1375insTGAGCATTTTTGGG	XP_005273881.1:p.Leu459Ter
XM_005273826.2:c.1122_1123insTGAGCATTTTTGGG	XP_005273883.1:p.Leu375Ter
XM_005273827.2:c.1377_1378insTGAGCATTTTTGGG	XP_005273884.1:p.Leu460Ter
XM_005273828.2:c.1377_1378insTGAGCATTTTTGGG	XP_005273885.1:p.Leu460Ter
XM_005273830.2:c.684_685insTGAGCATTTTTGGG	XP_005273887.1:p.Leu229Ter
XM_005273831.2:c.684_685insTGAGCATTTTTGGG	XP_005273888.1:p.Leu229Ter
XM_005273832.2:c.654_655insTGAGCATTTTTGGG	XP_005273889.1:p.Leu219Ter
XM_006718453.2:c.1377_1378insTGAGCATTTTTGGG	XP_006718516.1:p.Leu460Ter
XM_006718454.2:c.1377_1378insTGAGCATTTTTGGG	XP_006718517.1:p.Leu460Ter
XM_006718456.2:c.1377_1378insTGAGCATTTTTGGG	XP_006718519.1:p.Leu460Ter
XM_011544802.1:c.1137_1138insTGAGCATTTTTGGG	XP_011543104.1:p.Leu380Ter
XM_011544803.1:c.1377_1378insTGAGCATTTTTGGG	XP_011543105.1:p.Leu460Ter
XM_011544804.1:c.1377_1378insTGAGCATTTTTGGG	XP_011543106.1:p.Leu460Ter
XM_011544805.1:c.1377_1378insTGAGCATTTTTGGG	XP_011543107.1:p.Leu460Ter
XM_011544806.1:c.1377_1378insTGAGCATTTTTGGG	XP_011543108.1:p.Leu460Ter
XM_011544807.1:c.681_682insTGAGCATTTTTGGG	XP_011543109.1:p.Leu228Ter
XM_011544808.1:c.546_547insTGAGCATTTTTGGG	XP_011543110.1:p.Leu183Ter
XR_247191.1:n.1478_1479insTGAGCATTTTTGGG
XM_005273824.4:c.1374_1375insTGAGCATTTTTGGG	XP_005273881.1:p.Leu459Ter
XM_005273826.4:c.1122_1123insTGAGCATTTTTGGG	XP_005273883.1:p.Leu375Ter
XM_005273830.4:c.684_685insTGAGCATTTTTGGG	XP_005273887.1:p.Leu229Ter
XM_005273831.4:c.684_685insTGAGCATTTTTGGG	XP_005273888.1:p.Leu229Ter
XM_005273832.4:c.654_655insTGAGCATTTTTGGG	XP_005273889.1:p.Leu219Ter
XM_011544802.3:c.1137_1138insTGAGCATTTTTGGG	XP_011543104.1:p.Leu380Ter
XM_011544807.3:c.681_682insTGAGCATTTTTGGG	XP_011543109.1:p.Leu228Ter
XM_011544808.3:c.546_547insTGAGCATTTTTGGG	XP_011543110.1:p.Leu183Ter
XM_017017328.2:c.1208_1209insTGAGCATTTTTGGG	XP_016872817.1:p.Cys404GlufsTer8
XM_017017329.2:c.1205_1206insTGAGCATTTTTGGG	XP_016872818.1:p.Cys403GlufsTer8
XM_017017330.2:c.654_655insTGAGCATTTTTGGG	XP_016872819.1:p.Leu219Ter
XM_017017331.2:c.654_655insTGAGCATTTTTGGG	XP_016872820.1:p.Leu219Ter
XM_017017332.2:c.468_469insTGAGCATTTTTGGG	XP_016872821.1:p.Leu157Ter
XM_017017333.2:c.485_486insTGAGCATTTTTGGG	XP_016872822.1:p.Cys163GlufsTer8
XM_017017334.2:c.485_486insTGAGCATTTTTGGG	XP_016872823.1:p.Cys163GlufsTer8
XM_017017335.2:c.485_486insTGAGCATTTTTGGG	XP_016872824.1:p.Cys163GlufsTer8
XM_017017336.2:c.377_378insTGAGCATTTTTGGG	XP_016872825.1:p.Cys127GlufsTer8
XM_024448392.1:c.1167_1168insTGAGCATTTTTGGG	XP_024304160.1:p.Leu390Ter
XM_024448393.1:c.654_655insTGAGCATTTTTGGG	XP_024304161.1:p.Leu219Ter
XR_001747789.2:n.1309_1310insTGAGCATTTTTGGG
XR_001747790.2:n.1309_1310insTGAGCATTTTTGGG
XR_247191.3:n.1481_1482insTGAGCATTTTTGGG
NM_139075.4:c.1377_1378insTGAGCATTTTTGGG MANE Select	NP_620714.2:p.Leu460Ter