Canonical Allele Identifier: CA2338614986
Gene: RSPH6A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804351_45804357delinsGTCGCGC , CM000681.2:g.45804351_45804357delinsGTCGCGC GRCh38
NC_000019.9:g.46307609_46307615delinsGTCGCGC , CM000681.1:g.46307609_46307615delinsGTCGCGC GRCh37
NC_000019.8:g.50999449_50999455delinsGTCGCGC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1548_1554delinsGCGCGAC MANE Select ENSP00000221538.2:p.Gly516=
ENST00000221538.7:c.1548_1554delinsGCGCGAC ENSP00000221538.2:p.Gly516=
ENST00000597055.1:c.1548_1554delinsGCGCGAC ENSP00000472630.1:p.Gly516=
ENST00000600188.5:c.756_762delinsGCGCGAC ENSP00000471559.1:p.Gly252=
NM_030785.3:c.1548_1554delinsGCGCGAC NP_110412.1:p.Gly516=
XM_011527351.1:c.1548_1554delinsGCGCGAC XP_011525653.1:p.Gly516=
XM_011527351.2:c.1548_1554delinsGCGCGAC XP_011525653.1:p.Gly516=
NM_030785.4:c.1548_1554delinsGCGCGAC MANE Select NP_110412.1:p.Gly516=
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