Canonical Allele Identifier: CA597439675

Gene: TPP1

Linked Data

• dbSNP Id: rs1184124595
• gnomAD v2: 11-6638500-G-GCCCCAACCCCCATTCA
• gnomAD v4: 11-6617269-G-GCCCCAACCCCCATTCA
• MyVariant Identifiers: chr11:g.6638500_6638501insCCCCAACCCCCATTCA (hg19) ; chr11:g.6617269_6617270insCCCCAACCCCCATTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617275_6617290dup , CM000673.2:g.6617275_6617290dup	GRCh38
NC_000011.9:g.6638506_6638521dup , CM000673.1:g.6638506_6638521dup	GRCh37
NC_000011.8:g.6595082_6595097dup	NCBI36
NG_008653.1:g.7177_7192dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.394+16_394+31dup	ENSP00000507321.1:n.394+16_394+31dup
ENST00000299427.12:c.508+16_508+31dup MANE Select	ENSP00000299427.6:n.508+16_508+31dup
ENST00000428886.7:n.612_627dup
ENST00000436873.7:c.312+16_312+31dup
ENST00000524788.2:n.1536_1551dup
ENST00000524903.2:n.1652_1667dup
ENST00000528571.6:c.*264_*279dup	ENSP00000434647.1:n.*264_*279dup
ENST00000528807.2:n.164+16_164+31dup
ENST00000530040.2:n.479+74_479+89dup
ENST00000533371.6:c.-222+16_-222+31dup	ENSP00000437066.1:n.-222+16_-222+31dup
ENST00000534644.6:n.456+69_456+84dup
ENST00000642892.1:c.-222+69_-222+84dup	ENSP00000494165.1:n.-222+69_-222+84dup
ENST00000643439.1:c.*248+16_*248+31dup	ENSP00000495849.1:n.*248+16_*248+31dup
ENST00000643479.1:n.537+16_537+31dup
ENST00000643516.1:c.395+16_395+31dup
ENST00000644151.1:n.1816_1831dup
ENST00000644218.1:c.508+16_508+31dup	ENSP00000493574.1:n.508+16_508+31dup
ENST00000644683.1:c.450+74_450+89dup	ENSP00000494085.1:n.450+74_450+89dup
ENST00000644810.1:c.230-132_230-117dup	ENSP00000495895.1:n.230-132_230-117dup
ENST00000644831.1:n.553_568dup
ENST00000644933.1:c.-222+16_-222+31dup	ENSP00000496133.1:n.-222+16_-222+31dup
ENST00000645020.1:n.1552_1567dup
ENST00000645285.1:c.-222+16_-222+31dup	ENSP00000495058.1:n.-222+16_-222+31dup
ENST00000645331.1:n.743_758dup
ENST00000645620.1:c.-222+74_-222+89dup	ENSP00000493657.1:n.-222+74_-222+89dup
ENST00000646777.1:n.553_568dup
ENST00000647016.1:n.857_872dup
ENST00000647152.1:c.-222+16_-222+31dup	ENSP00000495893.1:n.-222+16_-222+31dup
ENST00000647209.1:c.*377+16_*377+31dup	ENSP00000495558.1:n.*377+16_*377+31dup
ENST00000647346.1:n.1528+16_1528+31dup
ENST00000299427.10:c.508+16_508+31dup	ENSP00000299427.6:n.508+16_508+31dup
ENST00000428886.6:n.546_561dup
ENST00000436873.6:c.450+74_450+89dup	ENSP00000398136.2:n.450+74_450+89dup
ENST00000524788.1:n.77_92dup
ENST00000528571.5:c.*248+16_*248+31dup	ENSP00000434647.1:n.*248+16_*248+31dup
ENST00000533371.5:c.-222+16_-222+31dup	ENSP00000437066.1:n.-222+16_-222+31dup
ENST00000534644.5:n.493+16_493+31dup
ENST00000611494.4:c.508+16_508+31dup	ENSP00000484546.1:n.508+16_508+31dup
NM_000391.3:c.508+16_508+31dup	NP_000382.3:n.508+16_508+31dup
NM_000391.4:c.508+16_508+31dup MANE Select	NP_000382.3:n.508+16_508+31dup