Canonical Allele Identifier: CA275433
Gene: TULP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198784
ClinVar RCV Id: RCV000180235
dbSNP Id: rs771723580
ExAC: 6:35477079 TTTGG / T
gnomAD v2: 6-35477079-TTTGG-T
gnomAD v3: 6-35509302-TTTGG-T
gnomAD v4: 6-35509302-TTTGG-T
MyVariant Identifiers: chr6:g.35477080_35477083del (hg19) chr6:g.35509303_35509306del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35509303_35509306del , CM000668.2:g.35509303_35509306del GRCh38
NC_000006.11:g.35477080_35477083del , CM000668.1:g.35477080_35477083del GRCh37
NC_000006.10:g.35585058_35585061del NCBI36
NG_009077.1:g.8565_8568del

Transcript Alleles

HGVS Amino-acid Change
ENST00000229771.11:c.725_728del MANE Select ENSP00000229771.6:p.Pro242GlnfsTer16
ENST00000229771.10:c.725_728del ENSP00000229771.6:p.Pro242GlnfsTer16
ENST00000322263.8:c.566_569del ENSP00000319414.4:p.Pro189GlnfsTer16
ENST00000373892.4:n.327_330del
ENST00000614066.4:c.725_728del ENSP00000477534.1:p.Pro242GlnfsTer16
NM_001289395.1:c.566_569del NP_001276324.1:p.Pro189GlnfsTer16
NM_003322.4:c.725_728del NP_003313.3:p.Pro242GlnfsTer16
NM_003322.5:c.725_728del NP_003313.3:p.Pro242GlnfsTer16
NM_003322.6:c.725_728del MANE Select NP_003313.3:p.Pro242GlnfsTer16
NM_001289395.2:c.566_569del NP_001276324.1:p.Pro189GlnfsTer16
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