Canonical Allele Identifier: CA5858812

Gene: TPP1

Linked Data

• ClinVar Variation Id: 305513
• ClinVar RCV Id: RCV000333752 ; RCV000675458 ; RCV001273176
• dbSNP Id: rs35039601
• ExAC: 11:6637739 ATT / A
• gnomAD v2: 11-6637739-ATT-A
• gnomAD v3: 11-6616508-ATT-A
• gnomAD v4: 11-6616508-ATT-A
• COSMIC: COSM1722828
• MyVariant Identifiers: chr11:g.6637743_6637744del (hg19) ; chr11:g.6637742_6637743del (hg19) ; chr11:g.6637740_6637741del (hg19) ; chr11:g.6616512_6616513del (hg38) ; chr11:g.6616509_6616510del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616527_6616528del , CM000673.2:g.6616527_6616528del	GRCh38
NC_000011.9:g.6637758_6637759del , CM000673.1:g.6637758_6637759del	GRCh37
NC_000011.8:g.6594334_6594335del	NCBI36
NG_008653.1:g.7952_7953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.773-7_773-6del	ENSP00000507321.1:n.773-7_773-6del
ENST00000299427.12:c.887-7_887-6del MANE Select	ENSP00000299427.6:n.887-7_887-6del
ENST00000436873.7:c.313-436_313-435del
ENST00000530040.2:n.480-7_480-6del
ENST00000533371.6:c.158-7_158-6del	ENSP00000437066.1:n.158-7_158-6del
ENST00000642892.1:c.158-7_158-6del	ENSP00000494165.1:n.158-7_158-6del
ENST00000643439.1:c.*627-7_*627-6del	ENSP00000495849.1:n.*627-7_*627-6del
ENST00000643479.1:n.1066_1067del
ENST00000643516.1:c.396-7_396-6del
ENST00000644218.1:c.886+151_886+152del	ENSP00000493574.1:n.886+151_886+152del
ENST00000644683.1:c.*340-7_*340-6del	ENSP00000494085.1:n.*340-7_*340-6del
ENST00000644810.1:c.608-7_608-6del	ENSP00000495895.1:n.608-7_608-6del
ENST00000644831.1:n.1063-7_1063-6del
ENST00000644933.1:c.158-7_158-6del	ENSP00000496133.1:n.158-7_158-6del
ENST00000645285.1:c.157+151_157+152del	ENSP00000495058.1:n.157+151_157+152del
ENST00000645331.1:n.1403_1404del
ENST00000645620.1:c.158-7_158-6del	ENSP00000493657.1:n.158-7_158-6del
ENST00000646777.1:n.1213_1214del
ENST00000647016.1:n.1367-7_1367-6del
ENST00000647152.1:c.158-7_158-6del	ENSP00000495893.1:n.158-7_158-6del
ENST00000647209.1:c.*756-7_*756-6del	ENSP00000495558.1:n.*756-7_*756-6del
ENST00000647346.1:n.1907-7_1907-6del
ENST00000299427.10:c.887-7_887-6del	ENSP00000299427.6:n.887-7_887-6del
ENST00000436873.6:c.451-7_451-6del	ENSP00000398136.2:n.451-7_451-6del
ENST00000533371.5:c.158-7_158-6del	ENSP00000437066.1:n.158-7_158-6del
ENST00000611494.4:c.887-7_887-6del	ENSP00000484546.1:n.887-7_887-6del
NM_000391.3:c.887-7_887-6del	NP_000382.3:n.887-7_887-6del
NM_000391.4:c.887-7_887-6del MANE Select	NP_000382.3:n.887-7_887-6del