Canonical Allele Identifier: CA2612256057

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617322-A-ACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617322_6617323insCCT , CM000673.2:g.6617322_6617323insCCT	GRCh38
NC_000011.9:g.6638553_6638554insCCT , CM000673.1:g.6638553_6638554insCCT	GRCh37
NC_000011.8:g.6595129_6595130insCCT	NCBI36
NG_008653.1:g.7139_7140insAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.372_373insAGG	ENSP00000507321.1:p.Ala124_Leu125insArg
ENST00000299427.12:c.486_487insAGG MANE Select	ENSP00000299427.6:p.Ala162_Leu163insArg
ENST00000428886.7:n.574_575insAGG
ENST00000436873.7:c.290_291insAGG
ENST00000524788.2:n.1498_1499insAGG
ENST00000524903.2:n.1614_1615insAGG
ENST00000528571.6:c.*226_*227insAGG	ENSP00000434647.1:n.*226_*227insAGG
ENST00000528807.2:n.142_143insAGG
ENST00000530040.2:n.479+36_479+37insAGG
ENST00000533371.6:c.-244_-243insAGG	ENSP00000437066.1:n.-244_-243insAGG
ENST00000534644.6:n.456+31_456+32insAGG
ENST00000642892.1:c.-222+31_-222+32insAGG	ENSP00000494165.1:n.-222+31_-222+32insAGG...
ENST00000643439.1:c.*226_*227insAGG	ENSP00000495849.1:n.*226_*227insAGG
ENST00000643479.1:n.515_516insAGG
ENST00000643516.1:c.373_374insAGG
ENST00000644151.1:n.1778_1779insAGG
ENST00000644218.1:c.486_487insAGG	ENSP00000493574.1:p.Ala162_Leu163insArg
ENST00000644683.1:c.450+36_450+37insAGG	ENSP00000494085.1:n.450+36_450+37insAGG
ENST00000644810.1:c.230-170_230-169insAGG	ENSP00000495895.1:n.230-170_230-169insAGG...
ENST00000644831.1:n.515_516insAGG
ENST00000644933.1:c.-244_-243insAGG	ENSP00000496133.1:n.-244_-243insAGG
ENST00000645020.1:n.1514_1515insAGG
ENST00000645285.1:c.-244_-243insAGG	ENSP00000495058.1:n.-244_-243insAGG
ENST00000645331.1:n.705_706insAGG
ENST00000645620.1:c.-222+36_-222+37insAGG	ENSP00000493657.1:n.-222+36_-222+37insAGG...
ENST00000646777.1:n.515_516insAGG
ENST00000647016.1:n.819_820insAGG
ENST00000647152.1:c.-244_-243insAGG	ENSP00000495893.1:n.-244_-243insAGG
ENST00000647209.1:c.*355_*356insAGG	ENSP00000495558.1:n.*355_*356insAGG
ENST00000647346.1:n.1506_1507insAGG
ENST00000299427.10:c.486_487insAGG	ENSP00000299427.6:p.Ala162_Leu163insArg
ENST00000428886.6:n.508_509insAGG
ENST00000436873.6:c.450+36_450+37insAGG	ENSP00000398136.2:n.450+36_450+37insAGG
ENST00000524788.1:n.39_40insAGG
ENST00000528571.5:c.*226_*227insAGG	ENSP00000434647.1:n.*226_*227insAGG
ENST00000533371.5:c.-244_-243insAGG	ENSP00000437066.1:n.-244_-243insAGG
ENST00000534644.5:n.471_472insAGG
ENST00000611494.4:c.486_487insAGG	ENSP00000484546.1:p.Ala162_Leu163insArg
NM_000391.3:c.486_487insAGG	NP_000382.3:p.Ala162_Leu163insArg
NM_000391.4:c.486_487insAGG MANE Select	NP_000382.3:p.Ala162_Leu163insArg