Canonical Allele Identifier: CA2695206259
Gene: TULP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500001_35500012dup , CM000668.2:g.35500001_35500012dup GRCh38
NC_000006.11:g.35467778_35467789dup , CM000668.1:g.35467778_35467789dup GRCh37
NC_000006.10:g.35575756_35575767dup NCBI36
NG_009077.1:g.17859_17870dup

Transcript Alleles

HGVS Amino-acid change
ENST00000229771.11:c.1464_1475dup MANE Select ENSP00000229771.6:p.Phe491_Gln492insHisLysAsnPhe
ENST00000229771.10:c.1464_1475dup ENSP00000229771.6:p.Phe491_Gln492insHisLysAsnPhe
ENST00000322263.8:c.1305_1316dup ENSP00000319414.4:p.Phe438_Gln439insHisLysAsnPhe
ENST00000614066.4:c.1458_1469dup ENSP00000477534.1:p.Phe489_Gln490insHisLysAsnPhe
NM_001289395.1:c.1305_1316dup NP_001276324.1:p.Phe438_Gln439insHisLysAsnPhe
NM_003322.4:c.1464_1475dup NP_003313.3:p.Phe491_Gln492insHisLysAsnPhe
NM_003322.5:c.1464_1475dup NP_003313.3:p.Phe491_Gln492insHisLysAsnPhe
NM_003322.6:c.1464_1475dup MANE Select NP_003313.3:p.Phe491_Gln492insHisLysAsnPhe
NM_001289395.2:c.1305_1316dup NP_001276324.1:p.Phe438_Gln439insHisLysAsnPhe