Canonical Allele Identifier: CA934783691

Gene: TPP1

Linked Data

• dbSNP Id: rs35039601
• gnomAD v3: 11-6616508-ATTTTTT-A
• gnomAD v4: 11-6616508-ATTTTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616523_6616528del , CM000673.2:g.6616523_6616528del	GRCh38
NC_000011.9:g.6637754_6637759del , CM000673.1:g.6637754_6637759del	GRCh37
NC_000011.8:g.6594330_6594335del	NCBI36
NG_008653.1:g.7948_7953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.773-11_773-6del	ENSP00000507321.1:n.773-11_773-6del
ENST00000299427.12:c.887-11_887-6del MANE Select	ENSP00000299427.6:n.887-11_887-6del
ENST00000436873.7:c.313-440_313-435del
ENST00000530040.2:n.480-11_480-6del
ENST00000533371.6:c.158-11_158-6del	ENSP00000437066.1:n.158-11_158-6del
ENST00000642892.1:c.158-11_158-6del	ENSP00000494165.1:n.158-11_158-6del
ENST00000643439.1:c.*627-11_*627-6del	ENSP00000495849.1:n.*627-11_*627-6del
ENST00000643479.1:n.1062_1067del
ENST00000643516.1:c.396-11_396-6del
ENST00000644218.1:c.886+147_886+152del	ENSP00000493574.1:n.886+147_886+152del
ENST00000644683.1:c.*340-11_*340-6del	ENSP00000494085.1:n.*340-11_*340-6del
ENST00000644810.1:c.608-11_608-6del	ENSP00000495895.1:n.608-11_608-6del
ENST00000644831.1:n.1063-11_1063-6del
ENST00000644933.1:c.158-11_158-6del	ENSP00000496133.1:n.158-11_158-6del
ENST00000645285.1:c.157+147_157+152del	ENSP00000495058.1:n.157+147_157+152del
ENST00000645331.1:n.1399_1404del
ENST00000645620.1:c.158-11_158-6del	ENSP00000493657.1:n.158-11_158-6del
ENST00000646777.1:n.1209_1214del
ENST00000647016.1:n.1367-11_1367-6del
ENST00000647152.1:c.158-11_158-6del	ENSP00000495893.1:n.158-11_158-6del
ENST00000647209.1:c.*756-11_*756-6del	ENSP00000495558.1:n.*756-11_*756-6del
ENST00000647346.1:n.1907-11_1907-6del
ENST00000299427.10:c.887-11_887-6del	ENSP00000299427.6:n.887-11_887-6del
ENST00000436873.6:c.451-11_451-6del	ENSP00000398136.2:n.451-11_451-6del
ENST00000533371.5:c.158-11_158-6del	ENSP00000437066.1:n.158-11_158-6del
ENST00000611494.4:c.887-11_887-6del	ENSP00000484546.1:n.887-11_887-6del
NM_000391.3:c.887-11_887-6del	NP_000382.3:n.887-11_887-6del
NM_000391.4:c.887-11_887-6del MANE Select	NP_000382.3:n.887-11_887-6del