Canonical Allele Identifier: CA1620928950
Gene: TULP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500015_35500023delinsTGAGGCCTG , CM000668.2:g.35500015_35500023delinsTGAGGCCTG GRCh38
NC_000006.11:g.35467792_35467800delinsTGAGGCCTG , CM000668.1:g.35467792_35467800delinsTGAGGCCTG GRCh37
NC_000006.10:g.35575770_35575778delinsTGAGGCCTG NCBI36
NG_009077.1:g.17848_17856delinsCAGGCCTCA

Transcript Alleles

HGVS Amino-acid change
ENST00000229771.11:c.1453_1461delinsCAGGCCTCA MANE Select ENSP00000229771.6:p.Gln485=
ENST00000229771.10:c.1453_1461delinsCAGGCCTCA ENSP00000229771.6:p.Gln485=
ENST00000322263.8:c.1294_1302delinsCAGGCCTCA ENSP00000319414.4:p.Gln432=
ENST00000614066.4:c.1447_1455delinsCAGGCCTCA ENSP00000477534.1:p.Gln483=
NM_001289395.1:c.1294_1302delinsCAGGCCTCA NP_001276324.1:p.Gln432=
NM_003322.4:c.1453_1461delinsCAGGCCTCA NP_003313.3:p.Gln485=
NM_003322.5:c.1453_1461delinsCAGGCCTCA NP_003313.3:p.Gln485=
NM_003322.6:c.1453_1461delinsCAGGCCTCA MANE Select NP_003313.3:p.Gln485=
NM_001289395.2:c.1294_1302delinsCAGGCCTCA NP_001276324.1:p.Gln432=