Canonical Allele Identifier: CA597439688

Gene: TPP1

Linked Data

• dbSNP Id: rs1338182035
• gnomAD v2: 11-6638877-CAG-C
• gnomAD v4: 11-6617646-CAG-C
• MyVariant Identifiers: chr11:g.6638878_6638879del (hg19) ; chr11:g.6617647_6617648del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617648_6617649del , CM000673.2:g.6617648_6617649del	GRCh38
NC_000011.9:g.6638879_6638880del , CM000673.1:g.6638879_6638880del	GRCh37
NC_000011.8:g.6595455_6595456del	NCBI36
NG_008653.1:g.6814_6815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.244_245del	ENSP00000507321.1:p.Leu82AspfsTer17
ENST00000299427.12:c.358_359del MANE Select	ENSP00000299427.6:p.Leu120AspfsTer17
ENST00000428886.7:n.446_447del
ENST00000436873.7:c.162_163del
ENST00000524788.2:n.1370_1371del
ENST00000524903.2:n.1486_1487del
ENST00000528571.6:c.*98_*99del	ENSP00000434647.1:n.*98_*99del
ENST00000530040.2:n.387_388del
ENST00000533371.6:c.-372_-371del	ENSP00000437066.1:n.-372_-371del
ENST00000534644.6:n.359_360del
ENST00000642892.1:c.-319_-318del	ENSP00000494165.1:n.-319_-318del
ENST00000643439.1:c.*98_*99del	ENSP00000495849.1:n.*98_*99del
ENST00000643479.1:n.387_388del
ENST00000643516.1:c.245_246del
ENST00000644151.1:n.1650_1651del
ENST00000644218.1:c.358_359del	ENSP00000493574.1:p.Leu120AspfsTer17
ENST00000644683.1:c.358_359del	ENSP00000494085.1:p.Leu120AspfsTer17
ENST00000644810.1:c.230-495_230-494del	ENSP00000495895.1:n.230-495_230-494del
ENST00000644831.1:n.387_388del
ENST00000644933.1:c.-372_-371del	ENSP00000496133.1:n.-372_-371del
ENST00000645020.1:n.1386_1387del
ENST00000645285.1:c.-372_-371del	ENSP00000495058.1:n.-372_-371del
ENST00000645331.1:n.380_381del
ENST00000645620.1:c.-314_-313del	ENSP00000493657.1:n.-314_-313del
ENST00000646777.1:n.387_388del
ENST00000647016.1:n.691_692del
ENST00000647152.1:c.-372_-371del	ENSP00000495893.1:n.-372_-371del
ENST00000647209.1:c.*227_*228del	ENSP00000495558.1:n.*227_*228del
ENST00000647346.1:n.1378_1379del
ENST00000299427.10:c.358_359del	ENSP00000299427.6:p.Leu120AspfsTer17
ENST00000428886.6:n.380_381del
ENST00000436873.6:c.358_359del	ENSP00000398136.2:p.Leu120AspfsTer17
ENST00000528571.5:c.*98_*99del	ENSP00000434647.1:n.*98_*99del
ENST00000530040.1:n.470_471del
ENST00000533371.5:c.-372_-371del	ENSP00000437066.1:n.-372_-371del
ENST00000534644.5:n.343_344del
ENST00000611494.4:c.358_359del	ENSP00000484546.1:p.Leu120AspfsTer17
NM_000391.3:c.358_359del	NP_000382.3:p.Leu120AspfsTer17
NM_000391.4:c.358_359del MANE Select	NP_000382.3:p.Leu120AspfsTer17