Canonical Allele Identifier: CA1950232562

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614558_6614560delinsTAG , CM000673.2:g.6614558_6614560delinsTAG	GRCh38
NC_000011.9:g.6635789_6635791delinsTAG , CM000673.1:g.6635789_6635791delinsTAG	GRCh37
NC_000011.8:g.6592365_6592367delinsTAG	NCBI36
NG_008653.1:g.9902_9904delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1564_1566delinsCTA	ENSP00000507321.1:p.Leu522=
ENST00000299427.12:c.1678_1680delinsCTA MANE Select	ENSP00000299427.6:p.Leu560=
ENST00000524611.2:n.717_719delinsCTA
ENST00000533371.6:c.949_951delinsCTA	ENSP00000437066.1:p.Leu317=
ENST00000642892.1:c.949_951delinsCTA	ENSP00000494165.1:p.Leu317=
ENST00000643342.1:c.751_753delinsCTA
ENST00000643439.1:c.*1418_*1420delinsCTA	ENSP00000495849.1:n.*1418_*1420delinsCTA
ENST00000643479.1:n.1864_1866delinsCTA
ENST00000643516.1:c.1187_1189delinsCTA
ENST00000644218.1:c.1489_1491delinsCTA	ENSP00000493574.1:p.Leu497=
ENST00000644683.1:c.*1131_*1133delinsCTA	ENSP00000494085.1:n.*1131_*1133delinsCTA
ENST00000644810.1:c.1399_1401delinsCTA	ENSP00000495895.1:p.Leu467=
ENST00000644831.1:n.1854_1856delinsCTA
ENST00000644933.1:c.*544_*546delinsCTA	ENSP00000496133.1:n.*544_*546delinsCTA
ENST00000645285.1:c.*544_*546delinsCTA	ENSP00000495058.1:n.*544_*546delinsCTA
ENST00000645331.1:n.2883_2885delinsCTA
ENST00000645620.1:c.949_951delinsCTA	ENSP00000493657.1:p.Leu317=
ENST00000646691.1:n.1565_1567delinsCTA
ENST00000646777.1:n.2011_2013delinsCTA
ENST00000647016.1:n.2158_2160delinsCTA
ENST00000647152.1:c.949_951delinsCTA	ENSP00000495893.1:p.Leu317=
ENST00000647209.1:c.*1547_*1549delinsCTA	ENSP00000495558.1:n.*1547_*1549delinsCTA
ENST00000647346.1:n.2698_2700delinsCTA
ENST00000299427.10:c.1678_1680delinsCTA	ENSP00000299427.6:p.Leu560=
ENST00000533371.5:c.949_951delinsCTA	ENSP00000437066.1:p.Leu317=
ENST00000611494.4:c.*6_*8delinsCTA	ENSP00000484546.1:n.*6_*8delinsCTA
NM_000391.3:c.1678_1680delinsCTA	NP_000382.3:p.Leu560=
NM_000391.4:c.1678_1680delinsCTA MANE Select	NP_000382.3:p.Leu560=