Canonical Allele Identifier: CA2579746328
Gene: RPS4Y1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2866827del , CM000686.2:g.2866827del GRCh38
NC_000024.9:g.2734868del , CM000686.1:g.2734868del GRCh37
NC_000024.8:g.2794868del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000250784.13:c.725del MANE Select ENSP00000250784.7:p.Lys242ArgfsTer26
ENST00000250784.12:c.725del ENSP00000250784.7:p.Lys242ArgfsTer26
ENST00000430575.1:c.752del ENSP00000415317.1:p.Lys251ArgfsTer?
ENST00000477725.1:n.869del
ENST00000515575.1:n.42+12056del
NM_001008.3:c.725del NP_000999.1:p.Lys242ArgfsTer26
NM_001008.4:c.725del MANE Select NP_000999.1:p.Lys242ArgfsTer26
Search 100 bp 5'
Search 100 bp 3'