Canonical Allele Identifier: CA321550092

Gene: RSPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42477365del , CM000683.2:g.42477365del	GRCh38
NC_000021.8:g.43897475del , CM000683.1:g.43897475del	GRCh37
NC_000021.7:g.42770544del	NCBI36
NG_034257.1:g.23992del

Transcript Alleles

HGVS	Amino-acid Change
NM_080860.4:c.655del MANE Select	NP_543136.1:p.Leu219CysfsTer?
ENST00000291536.8:c.655del MANE Select	ENSP00000291536.3:p.Leu219CysfsTer?
NM_001286506.1:c.541del	NP_001273435.1:p.Leu181CysfsTer?
NM_001286506.2:c.541del	NP_001273435.1:p.Leu181CysfsTer?
NM_080860.3:c.655del	NP_543136.1:p.Leu219CysfsTer?
ENST00000291536.7:c.655del	ENSP00000291536.3:p.Leu219CysfsTer?
ENST00000398352.3:c.541del	ENSP00000381395.3:p.Leu181CysfsTer?
ENST00000493019.1:n.2273del
XM_005261208.1:c.448del	XP_005261265.1:p.Leu150CysfsTer?
XM_005261208.2:c.448del	XP_005261265.1:p.Leu150CysfsTer?
XM_011529786.1:c.583del	XP_011528088.1:p.Leu195CysfsTer?