Canonical Allele Identifier: CA2573147186

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1380369
• ClinVar RCV Id: RCV001917200
• dbSNP Id: rs2134591509

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615162_6615233del , CM000673.2:g.6615162_6615233del	GRCh38
NC_000011.9:g.6636393_6636464del , CM000673.1:g.6636393_6636464del	GRCh37
NC_000011.8:g.6592969_6593040del	NCBI36
NG_008653.1:g.9229_9300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1249_1311+9del
ENST00000299427.12:c.1363_1425+9del
ENST00000524611.2:n.223_285+9del
ENST00000524924.2:n.483_545+9del
ENST00000533371.6:c.634_696+9del
ENST00000642892.1:c.634_696+9del
ENST00000643342.1:c.436_498+9del
ENST00000643439.1:c.*1103_*1165+9del
ENST00000643479.1:n.1549_1611+9del
ENST00000643516.1:c.872_934+9del
ENST00000644218.1:c.1174_1236+9del
ENST00000644683.1:c.*816_*878+9del
ENST00000644810.1:c.1084_1146+9del
ENST00000644831.1:n.1539_1601+9del
ENST00000644933.1:c.*229_*291+9del
ENST00000645285.1:c.*229_*291+9del
ENST00000645331.1:n.2568_2630+9del
ENST00000645620.1:c.634_696+9del
ENST00000646691.1:n.1250_1312+9del
ENST00000646777.1:n.1696_1758+9del
ENST00000647016.1:n.1843_1905+9del
ENST00000647152.1:c.634_696+9del
ENST00000647209.1:c.*1232_*1294+9del
ENST00000647346.1:n.2383_2445+9del
ENST00000299427.10:c.1363_1425+9del
ENST00000524611.1:n.241_303+9del
ENST00000533371.5:c.634_696+9del
ENST00000611494.4:c.1363_1425+9del
NM_000391.3:c.1363_1425+9del
NM_000391.4:c.1363_1425+9del