Canonical Allele Identifier: CA5858911

Gene: TPP1

Linked Data

• dbSNP Id: rs542863187
• ExAC: 11:6638405 TGAG / T
• gnomAD v2: 11-6638405-TGAG-T
• gnomAD v3: 11-6617174-TGAG-T
• gnomAD v4: 11-6617174-TGAG-T
• MyVariant Identifiers: chr11:g.6638406_6638408del (hg19) ; chr11:g.6617176_6617178del (hg38) ; chr11:g.6617175_6617177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617178_6617180del , CM000673.2:g.6617178_6617180del	GRCh38
NC_000011.9:g.6638409_6638411del , CM000673.1:g.6638409_6638411del	GRCh37
NC_000011.8:g.6594985_6594987del	NCBI36
NG_008653.1:g.7285_7287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.395-24_395-22del	ENSP00000507321.1:n.395-24_395-22del
ENST00000299427.12:c.509-24_509-22del MANE Select	ENSP00000299427.6:n.509-24_509-22del
ENST00000428886.7:n.720_722del
ENST00000436873.7:c.312+124_312+126del
ENST00000524788.2:n.1644_1646del
ENST00000524903.2:n.1760_1762del
ENST00000528807.2:n.165-24_165-22del
ENST00000530040.2:n.479+182_479+184del
ENST00000533371.6:c.-221-24_-221-22del	ENSP00000437066.1:n.-221-24_-221-22del
ENST00000534644.6:n.457-24_457-22del
ENST00000642892.1:c.-221-24_-221-22del	ENSP00000494165.1:n.-221-24_-221-22del
ENST00000643439.1:c.*249-24_*249-22del	ENSP00000495849.1:n.*249-24_*249-22del
ENST00000643479.1:n.538-24_538-22del
ENST00000643516.1:c.395+124_395+126del
ENST00000644151.1:n.1924_1926del
ENST00000644218.1:c.509-24_509-22del	ENSP00000493574.1:n.509-24_509-22del
ENST00000644683.1:c.451-24_451-22del	ENSP00000494085.1:n.451-24_451-22del
ENST00000644810.1:c.230-24_230-22del	ENSP00000495895.1:n.230-24_230-22del
ENST00000644831.1:n.661_663del
ENST00000644933.1:c.-221-24_-221-22del	ENSP00000496133.1:n.-221-24_-221-22del
ENST00000645020.1:n.1660_1662del
ENST00000645285.1:c.-221-24_-221-22del	ENSP00000495058.1:n.-221-24_-221-22del
ENST00000645331.1:n.851_853del
ENST00000645620.1:c.-221-24_-221-22del	ENSP00000493657.1:n.-221-24_-221-22del
ENST00000646777.1:n.661_663del
ENST00000647016.1:n.965_967del
ENST00000647152.1:c.-221-24_-221-22del	ENSP00000495893.1:n.-221-24_-221-22del
ENST00000647209.1:c.*378-24_*378-22del	ENSP00000495558.1:n.*378-24_*378-22del
ENST00000647346.1:n.1529-24_1529-22del
ENST00000299427.10:c.509-24_509-22del	ENSP00000299427.6:n.509-24_509-22del
ENST00000428886.6:n.654_656del
ENST00000436873.6:c.450+182_450+184del	ENSP00000398136.2:n.450+182_450+184del
ENST00000524788.1:n.185_187del
ENST00000528571.5:c.*249-24_*249-22del	ENSP00000434647.1:n.*249-24_*249-22del
ENST00000528807.1:n.35_37del
ENST00000533371.5:c.-221-24_-221-22del	ENSP00000437066.1:n.-221-24_-221-22del
ENST00000534644.5:n.494-24_494-22del
ENST00000611494.4:c.509-24_509-22del	ENSP00000484546.1:n.509-24_509-22del
NM_000391.3:c.509-24_509-22del	NP_000382.3:n.509-24_509-22del
NM_000391.4:c.509-24_509-22del MANE Select	NP_000382.3:n.509-24_509-22del