Canonical Allele Identifier: CA2614758498

Gene: TPCN2

Linked Data

• gnomAD v4: 11-69078755-G-GGAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69078755_69078756insGAAAAA , CM000673.2:g.69078755_69078756insGAAAAA	GRCh38
NC_000011.9:g.68846223_68846224insGAAAAA , CM000673.1:g.68846223_68846224insGAAAAA	GRCh37
NC_000011.8:g.68602799_68602800insGAAAAA	NCBI36
NG_016153.1:g.34874_34875insGAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692585.1:c.229_230insGAAAAA	ENSP00000509200.1:p.Asp77delinsGlyLysAsn
ENST00000294309.8:c.1372_1373insGAAAAA MANE Select	ENSP00000294309.3:p.Asp458delinsGlyLysAsn
ENST00000635811.1:c.1372_1373insGAAAAA	ENSP00000490341.1:p.Asp458delinsGlyLysAsn
ENST00000637084.1:c.229_230insGAAAAA	ENSP00000490615.1:p.Asp77delinsGlyLysAsn
ENST00000637342.1:c.1372_1373insGAAAAA	ENSP00000490171.1:p.Asp458delinsGlyLysAsn
ENST00000637504.1:c.1372_1373insGAAAAA	ENSP00000489759.1:p.Asp458delinsGlyLysAsn
ENST00000294309.7:c.1372_1373insGAAAAA	ENSP00000294309.3:p.Asp458delinsGlyLysAsn
ENST00000442692.2:n.965_966insGAAAAA
ENST00000535009.5:n.1181_1182insGAAAAA
ENST00000542467.1:c.1372_1373insGAAAAA	ENSP00000445551.1:p.Asp458delinsGlyLysAsn
NM_139075.3:c.1372_1373insGAAAAA	NP_620714.2:p.Asp458delinsGlyLysAsn
XM_005273824.2:c.1369_1370insGAAAAA	XP_005273881.1:p.Asp457delinsGlyLysAsn
XM_005273826.2:c.1117_1118insGAAAAA	XP_005273883.1:p.Asp373delinsGlyLysAsn
XM_005273827.2:c.1372_1373insGAAAAA	XP_005273884.1:p.Asp458delinsGlyLysAsn
XM_005273828.2:c.1372_1373insGAAAAA	XP_005273885.1:p.Asp458delinsGlyLysAsn
XM_005273830.2:c.679_680insGAAAAA	XP_005273887.1:p.Asp227delinsGlyLysAsn
XM_005273831.2:c.679_680insGAAAAA	XP_005273888.1:p.Asp227delinsGlyLysAsn
XM_005273832.2:c.649_650insGAAAAA	XP_005273889.1:p.Asp217delinsGlyLysAsn
XM_006718453.2:c.1372_1373insGAAAAA	XP_006718516.1:p.Asp458delinsGlyLysAsn
XM_006718454.2:c.1372_1373insGAAAAA	XP_006718517.1:p.Asp458delinsGlyLysAsn
XM_006718456.2:c.1372_1373insGAAAAA	XP_006718519.1:p.Asp458delinsGlyLysAsn
XM_011544802.1:c.1132_1133insGAAAAA	XP_011543104.1:p.Asp378delinsGlyLysAsn
XM_011544803.1:c.1372_1373insGAAAAA	XP_011543105.1:p.Asp458delinsGlyLysAsn
XM_011544804.1:c.1372_1373insGAAAAA	XP_011543106.1:p.Asp458delinsGlyLysAsn
XM_011544805.1:c.1372_1373insGAAAAA	XP_011543107.1:p.Asp458delinsGlyLysAsn
XM_011544806.1:c.1372_1373insGAAAAA	XP_011543108.1:p.Asp458delinsGlyLysAsn
XM_011544807.1:c.676_677insGAAAAA	XP_011543109.1:p.Asp226delinsGlyLysAsn
XM_011544808.1:c.541_542insGAAAAA	XP_011543110.1:p.Asp181delinsGlyLysAsn
XR_247191.1:n.1473_1474insGAAAAA
XM_005273824.4:c.1369_1370insGAAAAA	XP_005273881.1:p.Asp457delinsGlyLysAsn
XM_005273826.4:c.1117_1118insGAAAAA	XP_005273883.1:p.Asp373delinsGlyLysAsn
XM_005273830.4:c.679_680insGAAAAA	XP_005273887.1:p.Asp227delinsGlyLysAsn
XM_005273831.4:c.679_680insGAAAAA	XP_005273888.1:p.Asp227delinsGlyLysAsn
XM_005273832.4:c.649_650insGAAAAA	XP_005273889.1:p.Asp217delinsGlyLysAsn
XM_011544802.3:c.1132_1133insGAAAAA	XP_011543104.1:p.Asp378delinsGlyLysAsn
XM_011544807.3:c.676_677insGAAAAA	XP_011543109.1:p.Asp226delinsGlyLysAsn
XM_011544808.3:c.541_542insGAAAAA	XP_011543110.1:p.Asp181delinsGlyLysAsn
XM_017017328.2:c.1203_1204insGAAAAA	XP_016872817.1:p.Gln401_Met402insGluLys
XM_017017329.2:c.1200_1201insGAAAAA	XP_016872818.1:p.Gln400_Met401insGluLys
XM_017017330.2:c.649_650insGAAAAA	XP_016872819.1:p.Asp217delinsGlyLysAsn
XM_017017331.2:c.649_650insGAAAAA	XP_016872820.1:p.Asp217delinsGlyLysAsn
XM_017017332.2:c.463_464insGAAAAA	XP_016872821.1:p.Asp155delinsGlyLysAsn
XM_017017333.2:c.480_481insGAAAAA	XP_016872822.1:p.Gln160_Met161insGluLys
XM_017017334.2:c.480_481insGAAAAA	XP_016872823.1:p.Gln160_Met161insGluLys
XM_017017335.2:c.480_481insGAAAAA	XP_016872824.1:p.Gln160_Met161insGluLys
XM_017017336.2:c.372_373insGAAAAA	XP_016872825.1:p.Gln124_Met125insGluLys
XM_024448392.1:c.1162_1163insGAAAAA	XP_024304160.1:p.Asp388delinsGlyLysAsn
XM_024448393.1:c.649_650insGAAAAA	XP_024304161.1:p.Asp217delinsGlyLysAsn
XR_001747789.2:n.1304_1305insGAAAAA
XR_001747790.2:n.1304_1305insGAAAAA
XR_247191.3:n.1476_1477insGAAAAA
NM_139075.4:c.1372_1373insGAAAAA MANE Select	NP_620714.2:p.Asp458delinsGlyLysAsn