Canonical Allele Identifier: CA2585869014
Gene: RSPH6A HGNC NCBI

Linked Data

gnomAD v4: 19-45804261-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804262dup , CM000681.2:g.45804262dup GRCh38
NC_000019.9:g.46307520dup , CM000681.1:g.46307520dup GRCh37
NC_000019.8:g.50999360dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1643dup MANE Select ENSP00000221538.2:p.Leu549ProfsTer30
ENST00000221538.7:c.1643dup ENSP00000221538.2:p.Leu549ProfsTer30
ENST00000597055.1:c.1643dup ENSP00000472630.1:p.Leu549ProfsTer30
ENST00000600188.5:c.851dup ENSP00000471559.1:p.Leu285ProfsTer30
NM_030785.3:c.1643dup NP_110412.1:p.Leu549ProfsTer30
XM_011527351.1:c.1643dup XP_011525653.1:p.Leu549ProfsTer30
XM_011527351.2:c.1643dup XP_011525653.1:p.Leu549ProfsTer30
NM_030785.4:c.1643dup MANE Select NP_110412.1:p.Leu549ProfsTer30
Search 100 bp 5'
Search 100 bp 3'