Canonical Allele Identifier: CA934783900

Gene: TPP1

Linked Data

• dbSNP Id: rs1855592150
• gnomAD v3: 11-6616770-A-AT
• gnomAD v4: 11-6616770-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616770_6616771insT , CM000673.2:g.6616770_6616771insT	GRCh38
NC_000011.9:g.6638001_6638002insT , CM000673.1:g.6638001_6638002insT	GRCh37
NC_000011.8:g.6594577_6594578insT	NCBI36
NG_008653.1:g.7691_7692insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.662_663insA	ENSP00000507321.1:p.Val222CysfsTer13
ENST00000299427.12:c.776_777insA MANE Select	ENSP00000299427.6:p.Val260CysfsTer13
ENST00000436873.7:c.312+530_312+531insA
ENST00000524788.2:n.1935_1936insA
ENST00000524903.2:n.2051_2052insA
ENST00000528807.2:n.432_433insA
ENST00000530040.2:n.480-268_480-267insA
ENST00000533371.6:c.47_48insA	ENSP00000437066.1:p.Val17CysfsTer13
ENST00000642892.1:c.47_48insA	ENSP00000494165.1:p.Val17CysfsTer13
ENST00000643439.1:c.*516_*517insA	ENSP00000495849.1:n.*516_*517insA
ENST00000643479.1:n.805_806insA
ENST00000643516.1:c.396-268_396-267insA
ENST00000644151.1:n.2215_2216insA
ENST00000644218.1:c.776_777insA	ENSP00000493574.1:p.Val260CysfsTer13
ENST00000644683.1:c.*229_*230insA	ENSP00000494085.1:n.*229_*230insA
ENST00000644810.1:c.497_498insA	ENSP00000495895.1:p.Val167CysfsTer13
ENST00000644831.1:n.952_953insA
ENST00000644933.1:c.47_48insA	ENSP00000496133.1:p.Val17CysfsTer13
ENST00000645020.1:n.2066_2067insA
ENST00000645285.1:c.47_48insA	ENSP00000495058.1:p.Val17CysfsTer13
ENST00000645331.1:n.1142_1143insA
ENST00000645620.1:c.47_48insA	ENSP00000493657.1:p.Val17CysfsTer13
ENST00000646777.1:n.952_953insA
ENST00000647016.1:n.1256_1257insA
ENST00000647152.1:c.47_48insA	ENSP00000495893.1:p.Val17CysfsTer13
ENST00000647209.1:c.*645_*646insA	ENSP00000495558.1:n.*645_*646insA
ENST00000647346.1:n.1796_1797insA
ENST00000299427.10:c.776_777insA	ENSP00000299427.6:p.Val260CysfsTer13
ENST00000436873.6:c.451-268_451-267insA	ENSP00000398136.2:n.451-268_451-267insA
ENST00000524788.1:n.476_477insA
ENST00000528807.1:n.326_327insA
ENST00000533371.5:c.47_48insA	ENSP00000437066.1:p.Val17CysfsTer13
ENST00000611494.4:c.776_777insA	ENSP00000484546.1:p.Val260CysfsTer13
NM_000391.3:c.776_777insA	NP_000382.3:p.Val260CysfsTer13
NM_000391.4:c.776_777insA MANE Select	NP_000382.3:p.Val260CysfsTer13