Canonical Allele Identifier: CA2770629829
Gene: TULP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500146_35500147insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTGCGCACCGCCGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGA , CM000668.2:g.35500146_35500147insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTGCGCACCGCCGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGA GRCh38
NC_000006.11:g.35467923_35467924insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTGCGCACCGCCGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGA , CM000668.1:g.35467923_35467924insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTGCGCACCGCCGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGA GRCh37
NC_000006.10:g.35575901_35575902insGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGTCGGCACATTCTTGCGCACCGCCGCTATCGCGCCGACGATATAGGCAAACAAGGCAAAGA NCBI36
NG_009077.1:g.17724_17725insTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1329_1330insTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC MANE Select ENSP00000229771.6:p.Asp444SerfsTer12
ENST00000229771.10:c.1329_1330insTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC ENSP00000229771.6:p.Asp444SerfsTer12
ENST00000322263.8:c.1170_1171insTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC ENSP00000319414.4:p.Asp391SerfsTer12
ENST00000495781.1:n.505_506insTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC
ENST00000614066.4:c.1323_1324insTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC ENSP00000477534.1:p.Asp442SerfsTer12
NM_001289395.1:c.1170_1171insTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC NP_001276324.1:p.Asp391SerfsTer12
NM_003322.4:c.1329_1330insTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC NP_003313.3:p.Asp444SerfsTer12
NM_003322.5:c.1329_1330insTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC NP_003313.3:p.Asp444SerfsTer12
NM_003322.6:c.1329_1330insTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC MANE Select NP_003313.3:p.Asp444SerfsTer12
NM_001289395.2:c.1170_1171insTCTTTGCCTTGTTTGCCTATATCGTCGGCGCGATAGCGGCGGTGCGCAAGAATGTGCCGACCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGC NP_001276324.1:p.Asp391SerfsTer12