Canonical Allele Identifier: CA2770629820
Gene: TULP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500135_35500148del , CM000668.2:g.35500135_35500148del GRCh38
NC_000006.11:g.35467912_35467925del , CM000668.1:g.35467912_35467925del GRCh37
NC_000006.10:g.35575890_35575903del NCBI36
NG_009077.1:g.17726_17739del

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1331_1344del MANE Select ENSP00000229771.6:p.Asp444AlafsTer23
ENST00000229771.10:c.1331_1344del ENSP00000229771.6:p.Asp444AlafsTer23
ENST00000322263.8:c.1172_1185del ENSP00000319414.4:p.Asp391AlafsTer23
ENST00000495781.1:n.507_520del
ENST00000614066.4:c.1325_1338del ENSP00000477534.1:p.Asp442AlafsTer23
NM_001289395.1:c.1172_1185del NP_001276324.1:p.Asp391AlafsTer23
NM_003322.4:c.1331_1344del NP_003313.3:p.Asp444AlafsTer23
NM_003322.5:c.1331_1344del NP_003313.3:p.Asp444AlafsTer23
NM_003322.6:c.1331_1344del MANE Select NP_003313.3:p.Asp444AlafsTer23
NM_001289395.2:c.1172_1185del NP_001276324.1:p.Asp391AlafsTer23