Canonical Allele Identifier: CA597439890

Gene: TPP1

Linked Data

• ClinVar Variation Id: 846307
• ClinVar RCV Id: RCV001862794
• dbSNP Id: rs1474804613
• gnomAD v2: 11-6636714-CACT-C
• gnomAD v3: 11-6615483-CACT-C
• gnomAD v4: 11-6615483-CACT-C
• MyVariant Identifiers: chr11:g.6636715_6636717del (hg19) ; chr11:g.6615484_6615486del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6615484_6615486del , CM000673.2:g.6615484_6615486del	GRCh38
NC_000011.9:g.6636715_6636717del , CM000673.1:g.6636715_6636717del	GRCh37
NC_000011.8:g.6593291_6593293del	NCBI36
NG_008653.1:g.8976_8978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1108_1110del	ENSP00000507321.1:p.Ser370del
ENST00000299427.12:c.1222_1224del MANE Select	ENSP00000299427.6:p.Ser408del
ENST00000436873.7:c.459_461del
ENST00000524924.2:n.342_344del
ENST00000533371.6:c.493_495del	ENSP00000437066.1:p.Ser165del
ENST00000642892.1:c.493_495del	ENSP00000494165.1:p.Ser165del
ENST00000643342.1:c.295_297del
ENST00000643439.1:c.*962_*964del	ENSP00000495849.1:n.*962_*964del
ENST00000643479.1:n.1408_1410del
ENST00000643516.1:c.731_733del
ENST00000644218.1:c.1033_1035del	ENSP00000493574.1:p.Ser345del
ENST00000644683.1:c.*675_*677del	ENSP00000494085.1:n.*675_*677del
ENST00000644810.1:c.943_945del	ENSP00000495895.1:p.Ser315del
ENST00000644831.1:n.1398_1400del
ENST00000644933.1:c.*88_*90del	ENSP00000496133.1:n.*88_*90del
ENST00000645285.1:c.*88_*90del	ENSP00000495058.1:n.*88_*90del
ENST00000645331.1:n.2427_2429del
ENST00000645620.1:c.493_495del	ENSP00000493657.1:p.Ser165del
ENST00000646691.1:n.997_999del
ENST00000646777.1:n.1555_1557del
ENST00000647016.1:n.1702_1704del
ENST00000647152.1:c.493_495del	ENSP00000495893.1:p.Ser165del
ENST00000647209.1:c.*1091_*1093del	ENSP00000495558.1:n.*1091_*1093del
ENST00000647346.1:n.2242_2244del
ENST00000299427.10:c.1222_1224del	ENSP00000299427.6:p.Ser408del
ENST00000524924.1:n.177_179del
ENST00000532191.1:n.275_277del
ENST00000533371.5:c.493_495del	ENSP00000437066.1:p.Ser165del
ENST00000611494.4:c.1222_1224del	ENSP00000484546.1:p.Ser408del
NM_000391.3:c.1222_1224del	NP_000382.3:p.Ser408del
NM_000391.4:c.1222_1224del MANE Select	NP_000382.3:p.Ser408del