Canonical Allele Identifier: CA10639765

Gene: TPP1

Linked Data

• ClinVar Variation Id: 305511
• ClinVar RCV Id: RCV002520737
• dbSNP Id: rs886048541
• gnomAD v3: 11-6616507-GAT-G
• gnomAD v4: 11-6616507-GAT-G
• MyVariant Identifiers: chr11:g.6637739_6637740del (hg19) ; chr11:g.6616508_6616509del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616508_6616509del , CM000673.2:g.6616508_6616509del	GRCh38
NC_000011.9:g.6637739_6637740del , CM000673.1:g.6637739_6637740del	GRCh37
NC_000011.8:g.6594315_6594316del	NCBI36
NG_008653.1:g.7953_7954del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682424.1:c.773-6_773-5del	ENSP00000507321.1:n.773-6_773-5del
ENST00000299427.12:c.887-6_887-5del MANE Select	ENSP00000299427.6:n.887-6_887-5del
ENST00000436873.7:c.313-435_313-434del
ENST00000530040.2:n.480-6_480-5del
ENST00000533371.6:c.158-6_158-5del	ENSP00000437066.1:n.158-6_158-5del
ENST00000642892.1:c.158-6_158-5del	ENSP00000494165.1:n.158-6_158-5del
ENST00000643439.1:c.*627-6_*627-5del	ENSP00000495849.1:n.*627-6_*627-5del
ENST00000643479.1:n.1067_1068del
ENST00000643516.1:c.396-6_396-5del
ENST00000644218.1:c.886+152_886+153del	ENSP00000493574.1:n.886+152_886+153del
ENST00000644683.1:c.*340-6_*340-5del	ENSP00000494085.1:n.*340-6_*340-5del
ENST00000644810.1:c.608-6_608-5del	ENSP00000495895.1:n.608-6_608-5del
ENST00000644831.1:n.1063-6_1063-5del
ENST00000644933.1:c.158-6_158-5del	ENSP00000496133.1:n.158-6_158-5del
ENST00000645285.1:c.157+152_157+153del	ENSP00000495058.1:n.157+152_157+153del
ENST00000645331.1:n.1404_1405del
ENST00000645620.1:c.158-6_158-5del	ENSP00000493657.1:n.158-6_158-5del
ENST00000646777.1:n.1214_1215del
ENST00000647016.1:n.1367-6_1367-5del
ENST00000647152.1:c.158-6_158-5del	ENSP00000495893.1:n.158-6_158-5del
ENST00000647209.1:c.*756-6_*756-5del	ENSP00000495558.1:n.*756-6_*756-5del
ENST00000647346.1:n.1907-6_1907-5del
ENST00000299427.10:c.887-6_887-5del	ENSP00000299427.6:n.887-6_887-5del
ENST00000436873.6:c.451-6_451-5del	ENSP00000398136.2:n.451-6_451-5del
ENST00000533371.5:c.158-6_158-5del	ENSP00000437066.1:n.158-6_158-5del
ENST00000611494.4:c.887-6_887-5del	ENSP00000484546.1:n.887-6_887-5del
NM_000391.3:c.887-6_887-5del	NP_000382.3:n.887-6_887-5del
NM_000391.4:c.887-6_887-5del MANE Select	NP_000382.3:n.887-6_887-5del