Canonical Allele Identifier: CA2578784707

Gene: RSPH3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158977623del , CM000668.2:g.158977623del	GRCh38
NC_000006.11:g.159398655del , CM000668.1:g.159398655del	GRCh37
NC_000006.10:g.159318643del	NCBI36
NG_051819.1:g.27566del

Transcript Alleles

HGVS	Amino-acid Change
NM_031924.8:c.1173del MANE Select	NP_114130.4:p.Lys392SerfsTer9
ENST00000367069.7:c.1173del MANE Select	ENSP00000356036.1:p.Lys392SerfsTer9
NM_001346418.1:c.1311del	NP_001333347.1:p.Lys438SerfsTer9
NM_031924.4:c.1599del	NP_114130.3:p.Lys534SerfsTer9
NM_031924.5:c.1599del	NP_114130.3:p.Lys534SerfsTer9
NM_031924.6:c.1599del	NP_114130.3:p.Lys534SerfsTer9
NR_144434.1:n.1810del
ENST00000252655.1:c.1599del	ENSP00000252655.1:p.Lys534SerfsTer9
ENST00000367069.6:c.1173del	ENSP00000356036.1:p.Lys392SerfsTer9
ENST00000449822.5:c.885del	ENSP00000393195.1:p.Lys296SerfsTer9
XM_005267153.3:c.1311del	XP_005267210.1:p.Lys438SerfsTer9
XM_017011347.2:c.783del	XP_016866836.1:p.Lys262SerfsTer9
XM_024446566.1:c.783del	XP_024302334.1:p.Lys262SerfsTer9
XR_001743668.2:n.2049del
XR_001743669.2:n.2049del
XR_001743670.2:n.1761del
XR_001743671.2:n.1255del
XR_245553.2:n.2055del