Canonical Allele Identifier: CA597439689

Gene: TPP1

Linked Data

• dbSNP Id: rs1335476266
• gnomAD v2: 11-6638941-ACCGTGTGGAGGGT-A
• gnomAD v4: 11-6617710-ACCGTGTGGAGGGT-A
• MyVariant Identifiers: chr11:g.6638942_6638954del (hg19) ; chr11:g.6617711_6617723del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617712_6617724del , CM000673.2:g.6617712_6617724del	GRCh38
NC_000011.9:g.6638943_6638955del , CM000673.1:g.6638943_6638955del	GRCh37
NC_000011.8:g.6595519_6595531del	NCBI36
NG_008653.1:g.6739_6751del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.169_181del	ENSP00000507321.1:p.Thr57CysfsTer16
ENST00000299427.12:c.283_295del MANE Select	ENSP00000299427.6:p.Thr95CysfsTer16
ENST00000428886.7:n.371_383del
ENST00000436873.7:c.87_99del
ENST00000524788.2:n.1295_1307del
ENST00000524903.2:n.1411_1423del
ENST00000528571.6:c.*23_*35del	ENSP00000434647.1:n.*23_*35del
ENST00000530040.2:n.312_324del
ENST00000533371.6:c.-447_-435del	ENSP00000437066.1:n.-447_-435del
ENST00000534644.6:n.284_296del
ENST00000642892.1:c.-394_-382del	ENSP00000494165.1:n.-394_-382del
ENST00000643439.1:c.*23_*35del	ENSP00000495849.1:n.*23_*35del
ENST00000643479.1:n.312_324del
ENST00000643516.1:c.170_182del
ENST00000644151.1:n.1575_1587del
ENST00000644218.1:c.283_295del	ENSP00000493574.1:p.Thr95CysfsTer16
ENST00000644683.1:c.283_295del	ENSP00000494085.1:p.Thr95CysfsTer16
ENST00000644810.1:c.230-570_230-558del	ENSP00000495895.1:n.230-570_230-558del
ENST00000644831.1:n.312_324del
ENST00000644933.1:c.-447_-435del	ENSP00000496133.1:n.-447_-435del
ENST00000645020.1:n.1311_1323del
ENST00000645285.1:c.-447_-435del	ENSP00000495058.1:n.-447_-435del
ENST00000645331.1:n.305_317del
ENST00000645620.1:c.-389_-377del	ENSP00000493657.1:n.-389_-377del
ENST00000646777.1:n.312_324del
ENST00000647016.1:n.616_628del
ENST00000647152.1:c.-447_-435del	ENSP00000495893.1:n.-447_-435del
ENST00000647209.1:c.*152_*164del	ENSP00000495558.1:n.*152_*164del
ENST00000647346.1:n.1303_1315del
ENST00000299427.10:c.283_295del	ENSP00000299427.6:p.Thr95CysfsTer16
ENST00000428886.6:n.305_317del
ENST00000436873.6:c.283_295del	ENSP00000398136.2:p.Thr95CysfsTer16
ENST00000528571.5:c.*23_*35del	ENSP00000434647.1:n.*23_*35del
ENST00000530040.1:n.395_407del
ENST00000533371.5:c.-447_-435del	ENSP00000437066.1:n.-447_-435del
ENST00000534644.5:n.268_280del
ENST00000611494.4:c.283_295del	ENSP00000484546.1:p.Thr95CysfsTer16
NM_000391.3:c.283_295del	NP_000382.3:p.Thr95CysfsTer16
NM_000391.4:c.283_295del MANE Select	NP_000382.3:p.Thr95CysfsTer16