Canonical Allele Identifier: CA9522650
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs748032860
ExAC: 19:46307627 TTCC / T
gnomAD v2: 19-46307627-TTCC-T
gnomAD v3: 19-45804369-TTCC-T
gnomAD v4: 19-45804369-TTCC-T
MyVariant Identifiers: chr19:g.46307628_46307630del (hg19) chr19:g.45804370_45804372del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804378_45804380del , CM000681.2:g.45804378_45804380del GRCh38
NC_000019.9:g.46307636_46307638del , CM000681.1:g.46307636_46307638del GRCh37
NC_000019.8:g.50999476_50999478del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1533_1535del MANE Select ENSP00000221538.2:p.Glu512del
ENST00000221538.7:c.1533_1535del ENSP00000221538.2:p.Glu512del
ENST00000597055.1:c.1533_1535del ENSP00000472630.1:p.Glu512del
ENST00000600188.5:c.741_743del ENSP00000471559.1:p.Glu248del
NM_030785.3:c.1533_1535del NP_110412.1:p.Glu512del
XM_011527351.1:c.1533_1535del XP_011525653.1:p.Glu512del
XM_011527351.2:c.1533_1535del XP_011525653.1:p.Glu512del
NM_030785.4:c.1533_1535del MANE Select NP_110412.1:p.Glu512del
Search 100 bp 5'
Search 100 bp 3'