Canonical Allele Identifier: CA2770629828
Gene: TULP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35500146_35500147insGCGGAA , CM000668.2:g.35500146_35500147insGCGGAA GRCh38
NC_000006.11:g.35467923_35467924insGCGGAA , CM000668.1:g.35467923_35467924insGCGGAA GRCh37
NC_000006.10:g.35575901_35575902insGCGGAA NCBI36
NG_009077.1:g.17724_17725insTTCCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.1329_1330insTTCCGC MANE Select ENSP00000229771.6:p.Ser443_Asp444insPheArg
ENST00000229771.10:c.1329_1330insTTCCGC ENSP00000229771.6:p.Ser443_Asp444insPheArg
ENST00000322263.8:c.1170_1171insTTCCGC ENSP00000319414.4:p.Ser390_Asp391insPheArg
ENST00000495781.1:n.505_506insTTCCGC
ENST00000614066.4:c.1323_1324insTTCCGC ENSP00000477534.1:p.Ser441_Asp442insPheArg
NM_001289395.1:c.1170_1171insTTCCGC NP_001276324.1:p.Ser390_Asp391insPheArg
NM_003322.4:c.1329_1330insTTCCGC NP_003313.3:p.Ser443_Asp444insPheArg
NM_003322.5:c.1329_1330insTTCCGC NP_003313.3:p.Ser443_Asp444insPheArg
NM_003322.6:c.1329_1330insTTCCGC MANE Select NP_003313.3:p.Ser443_Asp444insPheArg
NM_001289395.2:c.1170_1171insTTCCGC NP_001276324.1:p.Ser390_Asp391insPheArg
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