Canonical Allele Identifier: CA2338614987
Gene: RSPH6A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804351_45804355delinsGTCGC , CM000681.2:g.45804351_45804355delinsGTCGC GRCh38
NC_000019.9:g.46307609_46307613delinsGTCGC , CM000681.1:g.46307609_46307613delinsGTCGC GRCh37
NC_000019.8:g.50999449_50999453delinsGTCGC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1550_1554delinsGCGAC MANE Select ENSP00000221538.2:p.Arg517=
ENST00000221538.7:c.1550_1554delinsGCGAC ENSP00000221538.2:p.Arg517=
ENST00000597055.1:c.1550_1554delinsGCGAC ENSP00000472630.1:p.Arg517=
ENST00000600188.5:c.758_762delinsGCGAC ENSP00000471559.1:p.Arg253=
NM_030785.3:c.1550_1554delinsGCGAC NP_110412.1:p.Arg517=
XM_011527351.1:c.1550_1554delinsGCGAC XP_011525653.1:p.Arg517=
XM_011527351.2:c.1550_1554delinsGCGAC XP_011525653.1:p.Arg517=
NM_030785.4:c.1550_1554delinsGCGAC MANE Select NP_110412.1:p.Arg517=
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