Canonical Allele Identifier: CA2585869020
Gene: RSPH6A HGNC NCBI

Linked Data

gnomAD v4: 19-45804402-CTG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804403_45804404del , CM000681.2:g.45804403_45804404del GRCh38
NC_000019.9:g.46307661_46307662del , CM000681.1:g.46307661_46307662del GRCh37
NC_000019.8:g.50999501_50999502del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1501_1502del MANE Select ENSP00000221538.2:p.Gln501ValfsTer2
ENST00000221538.7:c.1501_1502del ENSP00000221538.2:p.Gln501ValfsTer2
ENST00000597055.1:c.1501_1502del ENSP00000472630.1:p.Gln501ValfsTer2
ENST00000600188.5:c.709_710del ENSP00000471559.1:p.Gln237ValfsTer2
NM_030785.3:c.1501_1502del NP_110412.1:p.Gln501ValfsTer2
XM_011527351.1:c.1501_1502del XP_011525653.1:p.Gln501ValfsTer2
XM_011527351.2:c.1501_1502del XP_011525653.1:p.Gln501ValfsTer2
NM_030785.4:c.1501_1502del MANE Select NP_110412.1:p.Gln501ValfsTer2
Search 100 bp 5'
Search 100 bp 3'