Canonical Allele Identifier: CA1096426678

Gene: RSPH3

Linked Data

• gnomAD v3: 6-158982502-GC-G
• gnomAD v4: 6-158982502-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158982504del , CM000668.2:g.158982504del	GRCh38
NC_000006.11:g.159403536del , CM000668.1:g.159403536del	GRCh37
NC_000006.10:g.159323524del	NCBI36
NG_051819.1:g.22685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367069.7:c.678del MANE Select	ENSP00000356036.1:p.Arg226SerfsTer17
ENST00000252655.1:c.1104del	ENSP00000252655.1:p.Arg368SerfsTer17
ENST00000367069.6:c.678del	ENSP00000356036.1:p.Arg226SerfsTer17
ENST00000449822.5:c.390del	ENSP00000393195.1:p.Arg130SerfsTer17
NM_031924.4:c.1104del	NP_114130.3:p.Arg368SerfsTer17
XM_005267153.3:c.816del	XP_005267210.1:p.Arg272SerfsTer17
XR_245553.2:n.1560del
NM_001346418.1:c.816del	NP_001333347.1:p.Arg272SerfsTer17
NM_031924.5:c.1104del	NP_114130.3:p.Arg368SerfsTer17
NR_144434.1:n.1315del
XM_017011347.2:c.288del	XP_016866836.1:p.Arg96SerfsTer17
XM_024446566.1:c.288del	XP_024302334.1:p.Arg96SerfsTer17
XR_001743668.2:n.1554del
XR_001743669.2:n.1554del
XR_001743670.2:n.1266del
XR_001743671.2:n.760del
NM_031924.6:c.1104del	NP_114130.3:p.Arg368SerfsTer17
NM_031924.8:c.678del MANE Select	NP_114130.4:p.Arg226SerfsTer17