Canonical Allele Identifier: CA2585869021
Gene: RSPH6A HGNC NCBI

Linked Data

gnomAD v4: 19-45804406-TAGA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804409_45804411del , CM000681.2:g.45804409_45804411del GRCh38
NC_000019.9:g.46307667_46307669del , CM000681.1:g.46307667_46307669del GRCh37
NC_000019.8:g.50999507_50999509del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1496_1498del MANE Select ENSP00000221538.2:p.Phe499del
ENST00000221538.7:c.1496_1498del ENSP00000221538.2:p.Phe499del
ENST00000597055.1:c.1496_1498del ENSP00000472630.1:p.Phe499del
ENST00000600188.5:c.704_706del ENSP00000471559.1:p.Phe235del
NM_030785.3:c.1496_1498del NP_110412.1:p.Phe499del
XM_011527351.1:c.1496_1498del XP_011525653.1:p.Phe499del
XM_011527351.2:c.1496_1498del XP_011525653.1:p.Phe499del
NM_030785.4:c.1496_1498del MANE Select NP_110412.1:p.Phe499del
Search 100 bp 5'
Search 100 bp 3'