Canonical Allele Identifier: CA2572852942
Gene: RSPH6A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804017del , CM000681.2:g.45804017del GRCh38
NC_000019.9:g.46307275del , CM000681.1:g.46307275del GRCh37
NC_000019.8:g.50999115del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1653+235del MANE Select ENSP00000221538.2:n.1653+235del
ENST00000221538.7:c.1653+235del ENSP00000221538.2:n.1653+235del
ENST00000597055.1:c.1653+235del ENSP00000472630.1:n.1653+235del
ENST00000600188.5:c.861+235del ENSP00000471559.1:n.861+235del
NM_030785.3:c.1653+235del NP_110412.1:n.1653+235del
XM_011527351.1:c.1653+235del XP_011525653.1:n.1653+235del
XM_011527351.2:c.1653+235del XP_011525653.1:n.1653+235del
NM_030785.4:c.1653+235del MANE Select NP_110412.1:n.1653+235del