Canonical Allele Identifier: CA1139661818

Gene: TPP1

Linked Data

• ClinVar Variation Id: 967557
• ClinVar RCV Id: RCV001242500 ; RCV001876290
• dbSNP Id: rs1855559514

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615188_6615199delinsTCGGTGTC , CM000673.2:g.6615188_6615199delinsTCGGTGTC	GRCh38
NC_000011.9:g.6636419_6636430delinsTCGGTGTC , CM000673.1:g.6636419_6636430delinsTCGGTGTC	GRCh37
NC_000011.8:g.6592995_6593006delinsTCGGTGTC	NCBI36
NG_008653.1:g.9263_9274delinsGACACCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1283_1294delinsGACACCGA	ENSP00000507321.1:p.Val428GlyfsTer21
ENST00000299427.12:c.1397_1408delinsGACACCGA MANE Select	ENSP00000299427.6:p.Val466GlyfsTer21
ENST00000524611.2:n.257_268delinsGACACCGA
ENST00000524924.2:n.517_528delinsGACACCGA
ENST00000533371.6:c.668_679delinsGACACCGA	ENSP00000437066.1:p.Val223GlyfsTer21
ENST00000642892.1:c.668_679delinsGACACCGA	ENSP00000494165.1:p.Val223GlyfsTer21
ENST00000643342.1:c.470_481delinsGACACCGA
ENST00000643439.1:c.*1137_*1148delinsGACACCGA	ENSP00000495849.1:n.*1137_*1148delinsGACACCGA
ENST00000643479.1:n.1583_1594delinsGACACCGA
ENST00000643516.1:c.906_917delinsGACACCGA
ENST00000644218.1:c.1208_1219delinsGACACCGA	ENSP00000493574.1:p.Val403GlyfsTer21
ENST00000644683.1:c.*850_*861delinsGACACCGA	ENSP00000494085.1:n.*850_*861delinsGACACCGA
ENST00000644810.1:c.1118_1129delinsGACACCGA	ENSP00000495895.1:p.Val373GlyfsTer21
ENST00000644831.1:n.1573_1584delinsGACACCGA
ENST00000644933.1:c.*263_*274delinsGACACCGA	ENSP00000496133.1:n.*263_*274delinsGACACCGA
ENST00000645285.1:c.*263_*274delinsGACACCGA	ENSP00000495058.1:n.*263_*274delinsGACACCGA
ENST00000645331.1:n.2602_2613delinsGACACCGA
ENST00000645620.1:c.668_679delinsGACACCGA	ENSP00000493657.1:p.Val223GlyfsTer21
ENST00000646691.1:n.1284_1295delinsGACACCGA
ENST00000646777.1:n.1730_1741delinsGACACCGA
ENST00000647016.1:n.1877_1888delinsGACACCGA
ENST00000647152.1:c.668_679delinsGACACCGA	ENSP00000495893.1:p.Val223GlyfsTer21
ENST00000647209.1:c.*1266_*1277delinsGACACCGA	ENSP00000495558.1:n.*1266_*1277delinsGACACCGA
ENST00000647346.1:n.2417_2428delinsGACACCGA
ENST00000299427.10:c.1397_1408delinsGACACCGA	ENSP00000299427.6:p.Val466GlyfsTer21
ENST00000524611.1:n.275_286delinsGACACCGA
ENST00000533371.5:c.668_679delinsGACACCGA	ENSP00000437066.1:p.Val223GlyfsTer21
ENST00000611494.4:c.1397_1408delinsGACACCGA	ENSP00000484546.1:p.Val466GlyfsTer21
NM_000391.3:c.1397_1408delinsGACACCGA	NP_000382.3:p.Val466GlyfsTer21
NM_000391.4:c.1397_1408delinsGACACCGA MANE Select	NP_000382.3:p.Val466GlyfsTer21