Canonical Allele Identifier: CA2508687217
Gene: TULP1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500146_35500147insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTTGGCACATTCTTGCGCACCGCCGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGAATAC , CM000668.2:g.35500146_35500147insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTTGGCACATTCTTGCGCACCGCCGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGAATAC GRCh38
NC_000006.11:g.35467923_35467924insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTTGGCACATTCTTGCGCACCGCCGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGAATAC , CM000668.1:g.35467923_35467924insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTTGGCACATTCTTGCGCACCGCCGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGAATAC GRCh37
NC_000006.10:g.35575901_35575902insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTTGGCACATTCTTGCGCACCGCCGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGAATAC NCBI36
NG_009077.1:g.17725_17726insTATTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCAACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1330_1331insTATTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCAACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCG MANE Select ENSP00000229771.6:p.Asp444ValfsTer53
ENST00000229771.10:c.1330_1331insTATTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCAACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCG ENSP00000229771.6:p.Asp444ValfsTer53
ENST00000322263.8:c.1171_1172insTATTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCAACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCG ENSP00000319414.4:p.Asp391ValfsTer53
ENST00000495781.1:n.506_507insTATTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCAACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCG
ENST00000614066.4:c.1324_1325insTATTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCAACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCG ENSP00000477534.1:p.Asp442ValfsTer53
NM_001289395.1:c.1171_1172insTATTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCAACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCG NP_001276324.1:p.Asp391ValfsTer53
NM_003322.4:c.1330_1331insTATTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCAACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCG NP_003313.3:p.Asp444ValfsTer53
NM_003322.5:c.1330_1331insTATTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCAACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCG NP_003313.3:p.Asp444ValfsTer53
NM_003322.6:c.1330_1331insTATTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCAACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCG MANE Select NP_003313.3:p.Asp444ValfsTer53
NM_001289395.2:c.1171_1172insTATTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCAACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCG NP_001276324.1:p.Asp391ValfsTer53
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Search 100 bp 3'