Canonical Allele Identifier: CA2578594526
Gene: TULP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500143_35500144del , CM000668.2:g.35500143_35500144del GRCh38
NC_000006.11:g.35467920_35467921del , CM000668.1:g.35467920_35467921del GRCh37
NC_000006.10:g.35575898_35575899del NCBI36
NG_009077.1:g.17727_17728del

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1332_1333del MANE Select ENSP00000229771.6:p.Asp444GlufsTer27
ENST00000229771.10:c.1332_1333del ENSP00000229771.6:p.Asp444GlufsTer27
ENST00000322263.8:c.1173_1174del ENSP00000319414.4:p.Asp391GlufsTer27
ENST00000495781.1:n.508_509del
ENST00000614066.4:c.1326_1327del ENSP00000477534.1:p.Asp442GlufsTer27
NM_001289395.1:c.1173_1174del NP_001276324.1:p.Asp391GlufsTer27
NM_003322.4:c.1332_1333del NP_003313.3:p.Asp444GlufsTer27
NM_003322.5:c.1332_1333del NP_003313.3:p.Asp444GlufsTer27
NM_003322.6:c.1332_1333del MANE Select NP_003313.3:p.Asp444GlufsTer27
NM_001289395.2:c.1173_1174del NP_001276324.1:p.Asp391GlufsTer27