Canonical Allele Identifier: CA2528914988
Gene: TULP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500146_35500147insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTGCGCACCGCTGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGAACACAA , CM000668.2:g.35500146_35500147insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTGCGCACCGCTGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGAACACAA GRCh38
NC_000006.11:g.35467923_35467924insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTGCGCACCGCTGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGAACACAA , CM000668.1:g.35467923_35467924insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTGCGCACCGCTGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGAACACAA GRCh37
NC_000006.10:g.35575901_35575902insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTGCGCACCGCTGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGAACACAA NCBI36
NG_009077.1:g.17724_17725insTTGTGTTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCAGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1329_1330insTTGTGTTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCAGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC MANE Select ENSP00000229771.6:p.Asp444LeufsTer14
ENST00000229771.10:c.1329_1330insTTGTGTTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCAGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC ENSP00000229771.6:p.Asp444LeufsTer14
ENST00000322263.8:c.1170_1171insTTGTGTTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCAGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC ENSP00000319414.4:p.Asp391LeufsTer14
ENST00000495781.1:n.505_506insTTGTGTTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCAGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC
ENST00000614066.4:c.1323_1324insTTGTGTTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCAGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC ENSP00000477534.1:p.Asp442LeufsTer14
NM_001289395.1:c.1170_1171insTTGTGTTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCAGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC NP_001276324.1:p.Asp391LeufsTer14
NM_003322.4:c.1329_1330insTTGTGTTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCAGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC NP_003313.3:p.Asp444LeufsTer14
NM_003322.5:c.1329_1330insTTGTGTTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCAGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC NP_003313.3:p.Asp444LeufsTer14
NM_003322.6:c.1329_1330insTTGTGTTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCAGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC MANE Select NP_003313.3:p.Asp444LeufsTer14
NM_001289395.2:c.1170_1171insTTGTGTTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCAGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC NP_001276324.1:p.Asp391LeufsTer14