Canonical Allele Identifier: CA2338614969
Gene: RSPH6A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804314_45804317delinsCGGG , CM000681.2:g.45804314_45804317delinsCGGG GRCh38
NC_000019.9:g.46307572_46307575delinsCGGG , CM000681.1:g.46307572_46307575delinsCGGG GRCh37
NC_000019.8:g.50999412_50999415delinsCGGG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1588_1591delinsCCCG MANE Select ENSP00000221538.2:p.Pro530=
ENST00000221538.7:c.1588_1591delinsCCCG ENSP00000221538.2:p.Pro530=
ENST00000597055.1:c.1588_1591delinsCCCG ENSP00000472630.1:p.Pro530=
ENST00000600188.5:c.796_799delinsCCCG ENSP00000471559.1:p.Pro266=
NM_030785.3:c.1588_1591delinsCCCG NP_110412.1:p.Pro530=
XM_011527351.1:c.1588_1591delinsCCCG XP_011525653.1:p.Pro530=
XM_011527351.2:c.1588_1591delinsCCCG XP_011525653.1:p.Pro530=
NM_030785.4:c.1588_1591delinsCCCG MANE Select NP_110412.1:p.Pro530=
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