Canonical Allele Identifier: CA10631278

Gene: TPP1

Linked Data

• ClinVar Variation Id: 305510
• ClinVar RCV Id: RCV000319602
• dbSNP Id: rs886048540
• gnomAD v3: 11-6616507-GA-G
• gnomAD v4: 11-6616507-GA-G
• MyVariant Identifiers: chr11:g.6637739del (hg19) ; chr11:g.6616508del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616508del , CM000673.2:g.6616508del	GRCh38
NC_000011.9:g.6637739del , CM000673.1:g.6637739del	GRCh37
NC_000011.8:g.6594315del	NCBI36
NG_008653.1:g.7954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.773-5del	ENSP00000507321.1:n.773-5del
ENST00000299427.12:c.887-5del MANE Select	ENSP00000299427.6:n.887-5del
ENST00000436873.7:c.313-434del
ENST00000530040.2:n.480-5del
ENST00000533371.6:c.158-5del	ENSP00000437066.1:n.158-5del
ENST00000642892.1:c.158-5del	ENSP00000494165.1:n.158-5del
ENST00000643439.1:c.*627-5del	ENSP00000495849.1:n.*627-5del
ENST00000643479.1:n.1068del
ENST00000643516.1:c.396-5del
ENST00000644218.1:c.886+153del	ENSP00000493574.1:n.886+153del
ENST00000644683.1:c.*340-5del	ENSP00000494085.1:n.*340-5del
ENST00000644810.1:c.608-5del	ENSP00000495895.1:n.608-5del
ENST00000644831.1:n.1063-5del
ENST00000644933.1:c.158-5del	ENSP00000496133.1:n.158-5del
ENST00000645285.1:c.157+153del	ENSP00000495058.1:n.157+153del
ENST00000645331.1:n.1405del
ENST00000645620.1:c.158-5del	ENSP00000493657.1:n.158-5del
ENST00000646777.1:n.1215del
ENST00000647016.1:n.1367-5del
ENST00000647152.1:c.158-5del	ENSP00000495893.1:n.158-5del
ENST00000647209.1:c.*756-5del	ENSP00000495558.1:n.*756-5del
ENST00000647346.1:n.1907-5del
ENST00000299427.10:c.887-5del	ENSP00000299427.6:n.887-5del
ENST00000436873.6:c.451-5del	ENSP00000398136.2:n.451-5del
ENST00000533371.5:c.158-5del	ENSP00000437066.1:n.158-5del
ENST00000611494.4:c.887-5del	ENSP00000484546.1:n.887-5del
NM_000391.3:c.887-5del	NP_000382.3:n.887-5del
NM_000391.4:c.887-5del MANE Select	NP_000382.3:n.887-5del