Canonical Allele Identifier: CA2585869017
Gene: RSPH6A HGNC NCBI

Linked Data

gnomAD v4: 19-45804338-TCTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804342_45804344del , CM000681.2:g.45804342_45804344del GRCh38
NC_000019.9:g.46307600_46307602del , CM000681.1:g.46307600_46307602del GRCh37
NC_000019.8:g.50999440_50999442del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1564_1566del MANE Select ENSP00000221538.2:p.Glu522del
ENST00000221538.7:c.1564_1566del ENSP00000221538.2:p.Glu522del
ENST00000597055.1:c.1564_1566del ENSP00000472630.1:p.Glu522del
ENST00000600188.5:c.772_774del ENSP00000471559.1:p.Glu258del
NM_030785.3:c.1564_1566del NP_110412.1:p.Glu522del
XM_011527351.1:c.1564_1566del XP_011525653.1:p.Glu522del
XM_011527351.2:c.1564_1566del XP_011525653.1:p.Glu522del
NM_030785.4:c.1564_1566del MANE Select NP_110412.1:p.Glu522del
Search 100 bp 5'
Search 100 bp 3'