Canonical Allele Identifier: CA2612256458

Gene: TPP1

Linked Data

• gnomAD v4: 11-6617873-CTGGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617874_6617878del , CM000673.2:g.6617874_6617878del	GRCh38
NC_000011.9:g.6639105_6639109del , CM000673.1:g.6639105_6639109del	GRCh37
NC_000011.8:g.6595681_6595685del	NCBI36
NG_008653.1:g.6584_6588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.116-102_116-98del	ENSP00000507321.1:n.116-102_116-98del
ENST00000299427.12:c.230-102_230-98del MANE Select	ENSP00000299427.6:n.230-102_230-98del
ENST00000428886.7:n.318-102_318-98del
ENST00000436873.7:c.34-102_34-98del
ENST00000524788.2:n.1140_1144del
ENST00000524903.2:n.1256_1260del
ENST00000528571.6:c.90-102_90-98del	ENSP00000434647.1:n.90-102_90-98del
ENST00000530040.2:n.259-102_259-98del
ENST00000533371.6:c.-500-102_-500-98del	ENSP00000437066.1:n.-500-102_-500-98del
ENST00000534644.6:n.231-102_231-98del
ENST00000642892.1:c.-447-102_-447-98del	ENSP00000494165.1:n.-447-102_-447-98del
ENST00000643439.1:c.90-102_90-98del	ENSP00000495849.1:n.90-102_90-98del
ENST00000643479.1:n.259-102_259-98del
ENST00000643516.1:c.117-102_117-98del
ENST00000644151.1:n.1420_1424del
ENST00000644218.1:c.230-102_230-98del	ENSP00000493574.1:n.230-102_230-98del
ENST00000644683.1:c.230-102_230-98del	ENSP00000494085.1:n.230-102_230-98del
ENST00000644810.1:c.230-725_230-721del	ENSP00000495895.1:n.230-725_230-721del
ENST00000644831.1:n.259-102_259-98del
ENST00000644933.1:c.-500-102_-500-98del	ENSP00000496133.1:n.-500-102_-500-98del
ENST00000645020.1:n.1156_1160del
ENST00000645285.1:c.-500-102_-500-98del	ENSP00000495058.1:n.-500-102_-500-98del
ENST00000645331.1:n.252-102_252-98del
ENST00000645620.1:c.-442-102_-442-98del	ENSP00000493657.1:n.-442-102_-442-98del
ENST00000646777.1:n.259-102_259-98del
ENST00000647016.1:n.461_465del
ENST00000647152.1:c.-500-102_-500-98del	ENSP00000495893.1:n.-500-102_-500-98del
ENST00000647209.1:c.*99-102_*99-98del	ENSP00000495558.1:n.*99-102_*99-98del
ENST00000647346.1:n.1148_1152del
ENST00000299427.10:c.230-102_230-98del	ENSP00000299427.6:n.230-102_230-98del
ENST00000428886.6:n.252-102_252-98del
ENST00000436873.6:c.230-102_230-98del	ENSP00000398136.2:n.230-102_230-98del
ENST00000528571.5:c.90-102_90-98del	ENSP00000434647.1:n.90-102_90-98del
ENST00000528917.1:n.531-102_531-98del
ENST00000530040.1:n.342-102_342-98del
ENST00000533371.5:c.-500-102_-500-98del	ENSP00000437066.1:n.-500-102_-500-98del
ENST00000534644.5:n.215-102_215-98del
ENST00000611494.4:c.230-102_230-98del	ENSP00000484546.1:n.230-102_230-98del
NM_000391.3:c.230-102_230-98del	NP_000382.3:n.230-102_230-98del
NM_000391.4:c.230-102_230-98del MANE Select	NP_000382.3:n.230-102_230-98del