Canonical Allele Identifier: CA679349676

Gene: TPP1

Linked Data

• ClinVar Variation Id: 1065450
• ClinVar RCV Id: RCV001375971
• dbSNP Id: rs1222920812
• gnomAD v3: 11-6616400-GTCC-G
• gnomAD v4: 11-6616400-GTCC-G
• MyVariant Identifiers: chr11:g.6637632_6637634del (hg19) ; chr11:g.6616401_6616403del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616403_6616405del , CM000673.2:g.6616403_6616405del	GRCh38
NC_000011.9:g.6637634_6637636del , CM000673.1:g.6637634_6637636del	GRCh37
NC_000011.8:g.6594210_6594212del	NCBI36
NG_008653.1:g.8059_8061del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.873_875del	ENSP00000507321.1:p.Glu291del
ENST00000299427.12:c.987_989del MANE Select	ENSP00000299427.6:p.Glu329del
ENST00000436873.7:c.313-329_313-327del
ENST00000533371.6:c.258_260del	ENSP00000437066.1:p.Glu86del
ENST00000642892.1:c.258_260del	ENSP00000494165.1:p.Glu86del
ENST00000643342.1:c.77_79del
ENST00000643439.1:c.*727_*729del	ENSP00000495849.1:n.*727_*729del
ENST00000643479.1:n.1173_1175del
ENST00000643516.1:c.496_498del
ENST00000644218.1:c.886+258_886+260del	ENSP00000493574.1:n.886+258_886+260del
ENST00000644683.1:c.*440_*442del	ENSP00000494085.1:n.*440_*442del
ENST00000644810.1:c.708_710del	ENSP00000495895.1:p.Glu236del
ENST00000644831.1:n.1163_1165del
ENST00000644933.1:c.258_260del	ENSP00000496133.1:p.Glu86del
ENST00000645285.1:c.157+258_157+260del	ENSP00000495058.1:n.157+258_157+260del
ENST00000645331.1:n.1510_1512del
ENST00000645620.1:c.258_260del	ENSP00000493657.1:p.Glu86del
ENST00000646691.1:n.80_82del
ENST00000646777.1:n.1320_1322del
ENST00000647016.1:n.1467_1469del
ENST00000647152.1:c.258_260del	ENSP00000495893.1:p.Glu86del
ENST00000647209.1:c.*856_*858del	ENSP00000495558.1:n.*856_*858del
ENST00000647346.1:n.2007_2009del
ENST00000299427.10:c.987_989del	ENSP00000299427.6:p.Glu329del
ENST00000533371.5:c.258_260del	ENSP00000437066.1:p.Glu86del
ENST00000611494.4:c.987_989del	ENSP00000484546.1:p.Glu329del
NM_000391.3:c.987_989del	NP_000382.3:p.Glu329del
NM_000391.4:c.987_989del MANE Select	NP_000382.3:p.Glu329del