Canonical Allele Identifier: CA2585869016
Gene: RSPH6A HGNC NCBI

Linked Data

gnomAD v4: 19-45804314-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804318del , CM000681.2:g.45804318del GRCh38
NC_000019.9:g.46307576del , CM000681.1:g.46307576del GRCh37
NC_000019.8:g.50999416del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1590del MANE Select ENSP00000221538.2:p.Val531CysfsTer27
ENST00000221538.7:c.1590del ENSP00000221538.2:p.Val531CysfsTer27
ENST00000597055.1:c.1590del ENSP00000472630.1:p.Val531CysfsTer27
ENST00000600188.5:c.798del ENSP00000471559.1:p.Val267CysfsTer27
NM_030785.3:c.1590del NP_110412.1:p.Val531CysfsTer27
XM_011527351.1:c.1590del XP_011525653.1:p.Val531CysfsTer27
XM_011527351.2:c.1590del XP_011525653.1:p.Val531CysfsTer27
NM_030785.4:c.1590del MANE Select NP_110412.1:p.Val531CysfsTer27
Search 100 bp 5'
Search 100 bp 3'