Canonical Allele Identifier: CA2585869019
Gene: RSPH6A HGNC NCBI

Linked Data

gnomAD v4: 19-45804397-CTAAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804398_45804401del , CM000681.2:g.45804398_45804401del GRCh38
NC_000019.9:g.46307656_46307659del , CM000681.1:g.46307656_46307659del GRCh37
NC_000019.8:g.50999496_50999499del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1504_1507del MANE Select ENSP00000221538.2:p.Phe502ValfsTer?
ENST00000221538.7:c.1504_1507del ENSP00000221538.2:p.Phe502ValfsTer?
ENST00000597055.1:c.1504_1507del ENSP00000472630.1:p.Phe502ValfsTer?
ENST00000600188.5:c.712_715del ENSP00000471559.1:p.Phe238ValfsTer?
NM_030785.3:c.1504_1507del NP_110412.1:p.Phe502ValfsTer?
XM_011527351.1:c.1504_1507del XP_011525653.1:p.Phe502ValfsTer?
XM_011527351.2:c.1504_1507del XP_011525653.1:p.Phe502ValfsTer?
NM_030785.4:c.1504_1507del MANE Select NP_110412.1:p.Phe502ValfsTer?
Search 100 bp 5'
Search 100 bp 3'