Canonical Allele Identifier: CA2681000613

Gene: RSPH3

Linked Data

• gnomAD v4: 6-158982502-GCCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158982503_158982506del , CM000668.2:g.158982503_158982506del	GRCh38
NC_000006.11:g.159403535_159403538del , CM000668.1:g.159403535_159403538del	GRCh37
NC_000006.10:g.159323523_159323526del	NCBI36
NG_051819.1:g.22682_22685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367069.7:c.675_678del MANE Select	ENSP00000356036.1:p.Glu225AspfsTer17
ENST00000252655.1:c.1101_1104del	ENSP00000252655.1:p.Glu367AspfsTer17
ENST00000367069.6:c.675_678del	ENSP00000356036.1:p.Glu225AspfsTer17
ENST00000449822.5:c.387_390del	ENSP00000393195.1:p.Glu129AspfsTer17
NM_031924.4:c.1101_1104del	NP_114130.3:p.Glu367AspfsTer17
XM_005267153.3:c.813_816del	XP_005267210.1:p.Glu271AspfsTer17
XR_245553.2:n.1557_1560del
NM_001346418.1:c.813_816del	NP_001333347.1:p.Glu271AspfsTer17
NM_031924.5:c.1101_1104del	NP_114130.3:p.Glu367AspfsTer17
NR_144434.1:n.1312_1315del
XM_017011347.2:c.285_288del	XP_016866836.1:p.Glu95AspfsTer17
XM_024446566.1:c.285_288del	XP_024302334.1:p.Glu95AspfsTer17
XR_001743668.2:n.1551_1554del
XR_001743669.2:n.1551_1554del
XR_001743670.2:n.1263_1266del
XR_001743671.2:n.757_760del
NM_031924.6:c.1101_1104del	NP_114130.3:p.Glu367AspfsTer17
NM_031924.8:c.675_678del MANE Select	NP_114130.4:p.Glu225AspfsTer17