Canonical Allele Identifier: CA2770629824
Gene: TULP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500144_35500145insACAAAGCCCGCCATCGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGACGGCACATTTTTGCGCACCGCCGCTATCGCGCCGACGA , CM000668.2:g.35500144_35500145insACAAAGCCCGCCATCGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGACGGCACATTTTTGCGCACCGCCGCTATCGCGCCGACGA GRCh38
NC_000006.11:g.35467921_35467922insACAAAGCCCGCCATCGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGACGGCACATTTTTGCGCACCGCCGCTATCGCGCCGACGA , CM000668.1:g.35467921_35467922insACAAAGCCCGCCATCGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGACGGCACATTTTTGCGCACCGCCGCTATCGCGCCGACGA GRCh37
NC_000006.10:g.35575899_35575900insACAAAGCCCGCCATCGCGGAAACCCACGCAAACACGCTCCCCATGCCCAAAAGCGTATTGGACGGCACATTTTTGCGCACCGCCGCTATCGCGCCGACGA NCBI36
NG_009077.1:g.17726_17727insTCGTCGGCGCGATAGCGGCGGTGCGCAAAAATGTGCCGTCCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCGATGGCGGGCTTTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1331_1332insTCGTCGGCGCGATAGCGGCGGTGCGCAAAAATGTGCCGTCCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCGATGGCGGGCTTTGT MANE Select ENSP00000229771.6:p.Gly445ArgfsTer60
ENST00000229771.10:c.1331_1332insTCGTCGGCGCGATAGCGGCGGTGCGCAAAAATGTGCCGTCCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCGATGGCGGGCTTTGT ENSP00000229771.6:p.Gly445ArgfsTer60
ENST00000322263.8:c.1172_1173insTCGTCGGCGCGATAGCGGCGGTGCGCAAAAATGTGCCGTCCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCGATGGCGGGCTTTGT ENSP00000319414.4:p.Gly392ArgfsTer60
ENST00000495781.1:n.507_508insTCGTCGGCGCGATAGCGGCGGTGCGCAAAAATGTGCCGTCCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCGATGGCGGGCTTTGT
ENST00000614066.4:c.1325_1326insTCGTCGGCGCGATAGCGGCGGTGCGCAAAAATGTGCCGTCCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCGATGGCGGGCTTTGT ENSP00000477534.1:p.Gly443ArgfsTer60
NM_001289395.1:c.1172_1173insTCGTCGGCGCGATAGCGGCGGTGCGCAAAAATGTGCCGTCCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCGATGGCGGGCTTTGT NP_001276324.1:p.Gly392ArgfsTer60
NM_003322.4:c.1331_1332insTCGTCGGCGCGATAGCGGCGGTGCGCAAAAATGTGCCGTCCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCGATGGCGGGCTTTGT NP_003313.3:p.Gly445ArgfsTer60
NM_003322.5:c.1331_1332insTCGTCGGCGCGATAGCGGCGGTGCGCAAAAATGTGCCGTCCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCGATGGCGGGCTTTGT NP_003313.3:p.Gly445ArgfsTer60
NM_003322.6:c.1331_1332insTCGTCGGCGCGATAGCGGCGGTGCGCAAAAATGTGCCGTCCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCGATGGCGGGCTTTGT MANE Select NP_003313.3:p.Gly445ArgfsTer60
NM_001289395.2:c.1172_1173insTCGTCGGCGCGATAGCGGCGGTGCGCAAAAATGTGCCGTCCAATACGCTTTTGGGCATGGGGAGCGTGTTTGCGTGGGTTTCCGCGATGGCGGGCTTTGT NP_001276324.1:p.Gly392ArgfsTer60