Canonical Allele Identifier: CA2790314287
Gene: TPP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6616531_6616532insTT , CM000673.2:g.6616531_6616532insTT GRCh38
NC_000011.9:g.6637762_6637763insTT , CM000673.1:g.6637762_6637763insTT GRCh37
NC_000011.8:g.6594338_6594339insTT NCBI36
NG_008653.1:g.7930_7931insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682424.1:c.773-29_773-28insAA ENSP00000507321.1:n.773-29_773-28insAA
ENST00000299427.12:c.887-29_887-28insAA MANE Select ENSP00000299427.6:n.887-29_887-28insAA
ENST00000436873.7:c.313-458_313-457insAA
ENST00000524903.2:n.2290_2291insAA
ENST00000530040.2:n.480-29_480-28insAA
ENST00000533371.6:c.158-29_158-28insAA ENSP00000437066.1:n.158-29_158-28insAA
ENST00000642892.1:c.158-29_158-28insAA ENSP00000494165.1:n.158-29_158-28insAA
ENST00000643439.1:c.*627-29_*627-28insAA ENSP00000495849.1:n.*627-29_*627-28insAA
ENST00000643479.1:n.1044_1045insAA
ENST00000643516.1:c.396-29_396-28insAA
ENST00000644218.1:c.886+129_886+130insAA ENSP00000493574.1:n.886+129_886+130insAA
ENST00000644683.1:c.*340-29_*340-28insAA ENSP00000494085.1:n.*340-29_*340-28insAA
ENST00000644810.1:c.608-29_608-28insAA ENSP00000495895.1:n.608-29_608-28insAA
ENST00000644831.1:n.1063-29_1063-28insAA
ENST00000644933.1:c.158-29_158-28insAA ENSP00000496133.1:n.158-29_158-28insAA
ENST00000645285.1:c.157+129_157+130insAA ENSP00000495058.1:n.157+129_157+130insAA
ENST00000645331.1:n.1381_1382insAA
ENST00000645620.1:c.158-29_158-28insAA ENSP00000493657.1:n.158-29_158-28insAA
ENST00000646777.1:n.1191_1192insAA
ENST00000647016.1:n.1367-29_1367-28insAA
ENST00000647152.1:c.158-29_158-28insAA ENSP00000495893.1:n.158-29_158-28insAA
ENST00000647209.1:c.*756-29_*756-28insAA ENSP00000495558.1:n.*756-29_*756-28insAA
ENST00000647346.1:n.1907-29_1907-28insAA
ENST00000299427.10:c.887-29_887-28insAA ENSP00000299427.6:n.887-29_887-28insAA
ENST00000436873.6:c.451-29_451-28insAA ENSP00000398136.2:n.451-29_451-28insAA
ENST00000528807.1:n.565_566insAA
ENST00000533371.5:c.158-29_158-28insAA ENSP00000437066.1:n.158-29_158-28insAA
ENST00000611494.4:c.887-29_887-28insAA ENSP00000484546.1:n.887-29_887-28insAA
NM_000391.3:c.887-29_887-28insAA NP_000382.3:n.887-29_887-28insAA
NM_000391.4:c.887-29_887-28insAA MANE Select NP_000382.3:n.887-29_887-28insAA