Canonical Allele Identifier: CA597439695

Gene: TPP1

Linked Data

• dbSNP Id: rs1564855225
• gnomAD v2: 11-6638125-G-GAGGGTGAGTCCC
• gnomAD v4: 11-6616894-G-GAGGGTGAGTCCC
• MyVariant Identifiers: chr11:g.6638125_6638126insAGGGTGAGTCCC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616901_6616912dup , CM000673.2:g.6616901_6616912dup	GRCh38
NC_000011.9:g.6638132_6638143dup , CM000673.1:g.6638132_6638143dup	GRCh37
NC_000011.8:g.6594708_6594719dup	NCBI36
NG_008653.1:g.7556_7567dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.574-47_574-36dup	ENSP00000507321.1:n.574-47_574-36dup
ENST00000299427.12:c.688-47_688-36dup MANE Select	ENSP00000299427.6:n.688-47_688-36dup
ENST00000436873.7:c.312+395_312+406dup
ENST00000524788.2:n.1847-47_1847-36dup
ENST00000524903.2:n.1963-47_1963-36dup
ENST00000528807.2:n.344-47_344-36dup
ENST00000530040.2:n.480-403_480-392dup
ENST00000533371.6:c.-42-47_-42-36dup	ENSP00000437066.1:n.-42-47_-42-36dup
ENST00000642892.1:c.-42-47_-42-36dup	ENSP00000494165.1:n.-42-47_-42-36dup
ENST00000643439.1:c.*428-47_*428-36dup	ENSP00000495849.1:n.*428-47_*428-36dup
ENST00000643479.1:n.717-47_717-36dup
ENST00000643516.1:c.395+395_396-392dup
ENST00000644151.1:n.2127-47_2127-36dup
ENST00000644218.1:c.688-47_688-36dup	ENSP00000493574.1:n.688-47_688-36dup
ENST00000644683.1:c.*141-47_*141-36dup	ENSP00000494085.1:n.*141-47_*141-36dup
ENST00000644810.1:c.409-47_409-36dup	ENSP00000495895.1:n.409-47_409-36dup
ENST00000644831.1:n.864-47_864-36dup
ENST00000644933.1:c.-42-47_-42-36dup	ENSP00000496133.1:n.-42-47_-42-36dup
ENST00000645020.1:n.1931_1942dup
ENST00000645285.1:c.-42-47_-42-36dup	ENSP00000495058.1:n.-42-47_-42-36dup
ENST00000645331.1:n.1054-47_1054-36dup
ENST00000645620.1:c.-42-47_-42-36dup	ENSP00000493657.1:n.-42-47_-42-36dup
ENST00000646777.1:n.864-47_864-36dup
ENST00000647016.1:n.1168-47_1168-36dup
ENST00000647152.1:c.-42-47_-42-36dup	ENSP00000495893.1:n.-42-47_-42-36dup
ENST00000647209.1:c.*557-47_*557-36dup	ENSP00000495558.1:n.*557-47_*557-36dup
ENST00000647346.1:n.1708-47_1708-36dup
ENST00000299427.10:c.688-47_688-36dup	ENSP00000299427.6:n.688-47_688-36dup
ENST00000436873.6:c.451-403_451-392dup	ENSP00000398136.2:n.451-403_451-392dup
ENST00000524788.1:n.388-47_388-36dup
ENST00000528807.1:n.238-47_238-36dup
ENST00000533371.5:c.-42-47_-42-36dup	ENSP00000437066.1:n.-42-47_-42-36dup
ENST00000611494.4:c.688-47_688-36dup	ENSP00000484546.1:n.688-47_688-36dup
NM_000391.3:c.688-47_688-36dup	NP_000382.3:n.688-47_688-36dup
NM_000391.4:c.688-47_688-36dup MANE Select	NP_000382.3:n.688-47_688-36dup