Canonical Allele Identifier: CA679351523

Gene: TPP1

Linked Data

• ClinVar Variation Id: 2136997
• ClinVar RCV Id: RCV003058285
• dbSNP Id: rs1363424865
• gnomAD v3: 11-6617431-GGAGGTCAGAGAACA-G
• gnomAD v4: 11-6617431-GGAGGTCAGAGAACA-G
• MyVariant Identifiers: chr11:g.6638663_6638676del (hg19) ; chr11:g.6617432_6617445del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617441_6617454del , CM000673.2:g.6617441_6617454del	GRCh38
NC_000011.9:g.6638672_6638685del , CM000673.1:g.6638672_6638685del	GRCh37
NC_000011.8:g.6595248_6595261del	NCBI36
NG_008653.1:g.7017_7030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.267-17_267-4del	ENSP00000507321.1:n.267-17_267-4del
ENST00000299427.12:c.381-17_381-4del MANE Select	ENSP00000299427.6:n.381-17_381-4del
ENST00000428886.7:n.469-17_469-4del
ENST00000436873.7:c.185-17_185-4del
ENST00000524788.2:n.1393-17_1393-4del
ENST00000524903.2:n.1509-17_1509-4del
ENST00000528571.6:c.*121-17_*121-4del	ENSP00000434647.1:n.*121-17_*121-4del
ENST00000528807.2:n.20_33del
ENST00000530040.2:n.410-17_410-4del
ENST00000533371.6:c.-349-17_-349-4del	ENSP00000437066.1:n.-349-17_-349-4del
ENST00000534644.6:n.382-17_382-4del
ENST00000642892.1:c.-296-17_-296-4del	ENSP00000494165.1:n.-296-17_-296-4del
ENST00000643439.1:c.*121-17_*121-4del	ENSP00000495849.1:n.*121-17_*121-4del
ENST00000643479.1:n.410-17_410-4del
ENST00000643516.1:c.268-17_268-4del
ENST00000644151.1:n.1673-17_1673-4del
ENST00000644218.1:c.381-17_381-4del	ENSP00000493574.1:n.381-17_381-4del
ENST00000644683.1:c.381-17_381-4del	ENSP00000494085.1:n.381-17_381-4del
ENST00000644810.1:c.230-292_230-279del	ENSP00000495895.1:n.230-292_230-279del
ENST00000644831.1:n.410-17_410-4del
ENST00000644933.1:c.-349-17_-349-4del	ENSP00000496133.1:n.-349-17_-349-4del
ENST00000645020.1:n.1409-17_1409-4del
ENST00000645285.1:c.-349-17_-349-4del	ENSP00000495058.1:n.-349-17_-349-4del
ENST00000645331.1:n.583_596del
ENST00000645620.1:c.-291-17_-291-4del	ENSP00000493657.1:n.-291-17_-291-4del
ENST00000646777.1:n.410-17_410-4del
ENST00000647016.1:n.714-17_714-4del
ENST00000647152.1:c.-349-17_-349-4del	ENSP00000495893.1:n.-349-17_-349-4del
ENST00000647209.1:c.*250-17_*250-4del	ENSP00000495558.1:n.*250-17_*250-4del
ENST00000647346.1:n.1401-17_1401-4del
ENST00000299427.10:c.381-17_381-4del	ENSP00000299427.6:n.381-17_381-4del
ENST00000428886.6:n.403-17_403-4del
ENST00000436873.6:c.381-17_381-4del	ENSP00000398136.2:n.381-17_381-4del
ENST00000528571.5:c.*121-17_*121-4del	ENSP00000434647.1:n.*121-17_*121-4del
ENST00000530040.1:n.493-17_493-4del
ENST00000533371.5:c.-349-17_-349-4del	ENSP00000437066.1:n.-349-17_-349-4del
ENST00000534644.5:n.366-17_366-4del
ENST00000611494.4:c.381-17_381-4del	ENSP00000484546.1:n.381-17_381-4del
NM_000391.3:c.381-17_381-4del	NP_000382.3:n.381-17_381-4del
NM_000391.4:c.381-17_381-4del MANE Select	NP_000382.3:n.381-17_381-4del