Canonical Allele Identifier: CA597439687

Gene: TPP1

Linked Data

• ClinVar Variation Id: 961500
• ClinVar RCV Id: RCV001235198
• dbSNP Id: rs1414255979
• gnomAD v2: 11-6638850-CTCTCACCGGAT-C
• gnomAD v4: 11-6617619-CTCTCACCGGAT-C
• MyVariant Identifiers: chr11:g.6638851_6638861del (hg19) ; chr11:g.6617620_6617630del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617620_6617630del , CM000673.2:g.6617620_6617630del	GRCh38
NC_000011.9:g.6638851_6638861del , CM000673.1:g.6638851_6638861del	GRCh37
NC_000011.8:g.6595427_6595437del	NCBI36
NG_008653.1:g.6832_6842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.262_266+6del
ENST00000299427.12:c.376_380+6del
ENST00000428886.7:n.464_468+6del
ENST00000436873.7:c.180_184+6del
ENST00000524788.2:n.1388_1392+6del
ENST00000524903.2:n.1504_1508+6del
ENST00000528571.6:c.*116_*120+6del
ENST00000530040.2:n.405_409+6del
ENST00000533371.6:c.-354_-350+6del
ENST00000534644.6:n.377_381+6del
ENST00000642892.1:c.-301_-297+6del
ENST00000643439.1:c.*116_*120+6del
ENST00000643479.1:n.405_409+6del
ENST00000643516.1:c.263_267+6del
ENST00000644151.1:n.1668_1672+6del
ENST00000644218.1:c.376_380+6del
ENST00000644683.1:c.376_380+6del
ENST00000644810.1:c.230-477_230-467del	ENSP00000495895.1:n.230-477_230-467del
ENST00000644831.1:n.405_409+6del
ENST00000644933.1:c.-354_-350+6del
ENST00000645020.1:n.1404_1408+6del
ENST00000645285.1:c.-354_-350+6del
ENST00000645331.1:n.398_408del
ENST00000645620.1:c.-296_-292+6del
ENST00000646777.1:n.405_409+6del
ENST00000647016.1:n.709_713+6del
ENST00000647152.1:c.-354_-350+6del
ENST00000647209.1:c.*245_*249+6del
ENST00000647346.1:n.1396_1400+6del
ENST00000299427.10:c.376_380+6del
ENST00000428886.6:n.398_402+6del
ENST00000436873.6:c.376_380+6del
ENST00000528571.5:c.*116_*120+6del
ENST00000530040.1:n.488_492+6del
ENST00000533371.5:c.-354_-350+6del
ENST00000534644.5:n.361_365+6del
ENST00000611494.4:c.376_380+6del
NM_000391.3:c.376_380+6del
NM_000391.4:c.376_380+6del