Canonical Allele Identifier: CA9522639
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs755001934
ExAC: 19:46307609 GTCGCGC / G
gnomAD v2: 19-46307609-GTCGCGC-G
gnomAD v3: 19-45804351-GTCGCGC-G
gnomAD v4: 19-45804351-GTCGCGC-G
MyVariant Identifiers: chr19:g.46307610_46307615del (hg19) chr19:g.45804352_45804357del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804352_45804357del , CM000681.2:g.45804352_45804357del GRCh38
NC_000019.9:g.46307610_46307615del , CM000681.1:g.46307610_46307615del GRCh37
NC_000019.8:g.50999450_50999455del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1548_1553del MANE Select ENSP00000221538.2:p.Arg517_Asp518del
ENST00000221538.7:c.1548_1553del ENSP00000221538.2:p.Arg517_Asp518del
ENST00000597055.1:c.1548_1553del ENSP00000472630.1:p.Arg517_Asp518del
ENST00000600188.5:c.756_761del ENSP00000471559.1:p.Arg253_Asp254del
NM_030785.3:c.1548_1553del NP_110412.1:p.Arg517_Asp518del
XM_011527351.1:c.1548_1553del XP_011525653.1:p.Arg517_Asp518del
XM_011527351.2:c.1548_1553del XP_011525653.1:p.Arg517_Asp518del
NM_030785.4:c.1548_1553del MANE Select NP_110412.1:p.Arg517_Asp518del
Search 100 bp 5'
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