Canonical Allele Identifier: CA9522661
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs771705288
ExAC: 19:46307683 CCTGCGTGG / C
gnomAD v2: 19-46307683-CCTGCGTGG-C
gnomAD v3: 19-45804425-CCTGCGTGG-C
gnomAD v4: 19-45804425-CCTGCGTGG-C
MyVariant Identifiers: chr19:g.46307684_46307691del (hg19) chr19:g.45804426_45804433del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804427_45804434del , CM000681.2:g.45804427_45804434del GRCh38
NC_000019.9:g.46307685_46307692del , CM000681.1:g.46307685_46307692del GRCh37
NC_000019.8:g.50999525_50999532del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1472_1479del MANE Select ENSP00000221538.2:p.Ala491GlyfsTer10
ENST00000221538.7:c.1472_1479del ENSP00000221538.2:p.Ala491GlyfsTer10
ENST00000597055.1:c.1472_1479del ENSP00000472630.1:p.Ala491GlyfsTer10
ENST00000600188.5:c.680_687del ENSP00000471559.1:p.Ala227GlyfsTer10
NM_030785.3:c.1472_1479del NP_110412.1:p.Ala491GlyfsTer10
XM_011527351.1:c.1472_1479del XP_011525653.1:p.Ala491GlyfsTer10
XM_011527351.2:c.1472_1479del XP_011525653.1:p.Ala491GlyfsTer10
NM_030785.4:c.1472_1479del MANE Select NP_110412.1:p.Ala491GlyfsTer10
Search 100 bp 5'
Search 100 bp 3'