Canonical Allele Identifier: CA5858813

Gene: TPP1

Linked Data

• ClinVar Variation Id: 305512
• ClinVar RCV Id: RCV000273949 ; RCV000675461 ; RCV001835777 ; RCV001702419
• dbSNP Id: rs35039601
• ExAC: 11:6637739 AT / A
• gnomAD v2: 11-6637739-AT-A
• gnomAD v3: 11-6616508-AT-A
• gnomAD v4: 11-6616508-AT-A
• COSMIC: COSM5895361
• MyVariant Identifiers: chr11:g.6637744del (hg19) ; chr11:g.6637743del (hg19) ; chr11:g.6637740del (hg19) ; chr11:g.6616513del (hg38) ; chr11:g.6616509del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616528del , CM000673.2:g.6616528del	GRCh38
NC_000011.9:g.6637759del , CM000673.1:g.6637759del	GRCh37
NC_000011.8:g.6594335del	NCBI36
NG_008653.1:g.7953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.773-6del	ENSP00000507321.1:n.773-6del
ENST00000299427.12:c.887-6del MANE Select	ENSP00000299427.6:n.887-6del
ENST00000436873.7:c.313-435del
ENST00000530040.2:n.480-6del
ENST00000533371.6:c.158-6del	ENSP00000437066.1:n.158-6del
ENST00000642892.1:c.158-6del	ENSP00000494165.1:n.158-6del
ENST00000643439.1:c.*627-6del	ENSP00000495849.1:n.*627-6del
ENST00000643479.1:n.1067del
ENST00000643516.1:c.396-6del
ENST00000644218.1:c.886+152del	ENSP00000493574.1:n.886+152del
ENST00000644683.1:c.*340-6del	ENSP00000494085.1:n.*340-6del
ENST00000644810.1:c.608-6del	ENSP00000495895.1:n.608-6del
ENST00000644831.1:n.1063-6del
ENST00000644933.1:c.158-6del	ENSP00000496133.1:n.158-6del
ENST00000645285.1:c.157+152del	ENSP00000495058.1:n.157+152del
ENST00000645331.1:n.1404del
ENST00000645620.1:c.158-6del	ENSP00000493657.1:n.158-6del
ENST00000646777.1:n.1214del
ENST00000647016.1:n.1367-6del
ENST00000647152.1:c.158-6del	ENSP00000495893.1:n.158-6del
ENST00000647209.1:c.*756-6del	ENSP00000495558.1:n.*756-6del
ENST00000647346.1:n.1907-6del
ENST00000299427.10:c.887-6del	ENSP00000299427.6:n.887-6del
ENST00000436873.6:c.451-6del	ENSP00000398136.2:n.451-6del
ENST00000533371.5:c.158-6del	ENSP00000437066.1:n.158-6del
ENST00000611494.4:c.887-6del	ENSP00000484546.1:n.887-6del
NM_000391.3:c.887-6del	NP_000382.3:n.887-6del
NM_000391.4:c.887-6del MANE Select	NP_000382.3:n.887-6del