Canonical Allele Identifier: CA1950232687

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614616_6614627delinsCCAGGACCAGAG , CM000673.2:g.6614616_6614627delinsCCAGGACCAGAG	GRCh38
NC_000011.9:g.6635847_6635858delinsCCAGGACCAGAG , CM000673.1:g.6635847_6635858delinsCCAGGACCAGAG	GRCh37
NC_000011.8:g.6592423_6592434delinsCCAGGACCAGAG	NCBI36
NG_008653.1:g.9835_9846delinsCTCTGGTCCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1497_1508delinsCTCTGGTCCTGG	ENSP00000507321.1:p.Cys499=
ENST00000299427.12:c.1611_1622delinsCTCTGGTCCTGG MANE Select	ENSP00000299427.6:p.Cys537=
ENST00000524611.2:n.650_661delinsCTCTGGTCCTGG
ENST00000524924.2:n.731_742delinsCTCTGGTCCTGG
ENST00000533371.6:c.882_893delinsCTCTGGTCCTGG	ENSP00000437066.1:p.Cys294=
ENST00000642892.1:c.882_893delinsCTCTGGTCCTGG	ENSP00000494165.1:p.Cys294=
ENST00000643342.1:c.684_695delinsCTCTGGTCCTGG
ENST00000643439.1:c.*1351_*1362delinsCTCTGGTCCTGG	ENSP00000495849.1:n.*1351_*1362delinsCTCTGGTCCTGG
ENST00000643479.1:n.1797_1808delinsCTCTGGTCCTGG
ENST00000643516.1:c.1120_1131delinsCTCTGGTCCTGG
ENST00000644218.1:c.1422_1433delinsCTCTGGTCCTGG	ENSP00000493574.1:p.Cys474=
ENST00000644683.1:c.*1064_*1075delinsCTCTGGTCCTGG	ENSP00000494085.1:n.*1064_*1075delinsCTCTGGTCCTGG
ENST00000644810.1:c.1332_1343delinsCTCTGGTCCTGG	ENSP00000495895.1:p.Cys444=
ENST00000644831.1:n.1787_1798delinsCTCTGGTCCTGG
ENST00000644933.1:c.*477_*488delinsCTCTGGTCCTGG	ENSP00000496133.1:n.*477_*488delinsCTCTGGTCCTGG
ENST00000645285.1:c.*477_*488delinsCTCTGGTCCTGG	ENSP00000495058.1:n.*477_*488delinsCTCTGGTCCTGG
ENST00000645331.1:n.2816_2827delinsCTCTGGTCCTGG
ENST00000645620.1:c.882_893delinsCTCTGGTCCTGG	ENSP00000493657.1:p.Cys294=
ENST00000646691.1:n.1498_1509delinsCTCTGGTCCTGG
ENST00000646777.1:n.1944_1955delinsCTCTGGTCCTGG
ENST00000647016.1:n.2091_2102delinsCTCTGGTCCTGG
ENST00000647152.1:c.882_893delinsCTCTGGTCCTGG	ENSP00000495893.1:p.Cys294=
ENST00000647209.1:c.*1480_*1491delinsCTCTGGTCCTGG	ENSP00000495558.1:n.*1480_*1491delinsCTCTGGTCCTGG
ENST00000647346.1:n.2631_2642delinsCTCTGGTCCTGG
ENST00000299427.10:c.1611_1622delinsCTCTGGTCCTGG	ENSP00000299427.6:p.Cys537=
ENST00000533371.5:c.882_893delinsCTCTGGTCCTGG	ENSP00000437066.1:p.Cys294=
ENST00000611494.4:c.1611_1622delinsCTCTGGTCCTGG	ENSP00000484546.1:p.Cys537=
NM_000391.3:c.1611_1622delinsCTCTGGTCCTGG	NP_000382.3:p.Cys537=
NM_000391.4:c.1611_1622delinsCTCTGGTCCTGG MANE Select	NP_000382.3:p.Cys537=