Canonical Allele Identifier: CA1676373905

Gene: RSPH3

Linked Data

• ClinVar Variation Id: 1009986
• ClinVar RCV Id: RCV001307552
• dbSNP Id: rs1777895627

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158977746_158977747insGAC , CM000668.2:g.158977746_158977747insGAC	GRCh38
NC_000006.11:g.159398778_159398779insGAC , CM000668.1:g.159398778_159398779insGAC	GRCh37
NC_000006.10:g.159318766_159318767insGAC	NCBI36
NG_051819.1:g.27441_27442insGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367069.7:c.1048_1049insGTC MANE Select	ENSP00000356036.1:p.Ala350delinsGlyPro
ENST00000252655.1:c.1474_1475insGTC	ENSP00000252655.1:p.Ala492delinsGlyPro
ENST00000367069.6:c.1048_1049insGTC	ENSP00000356036.1:p.Ala350delinsGlyPro
ENST00000449822.5:c.760_761insGTC	ENSP00000393195.1:p.Ala254delinsGlyPro
NM_031924.4:c.1474_1475insGTC	NP_114130.3:p.Ala492delinsGlyPro
XM_005267153.3:c.1186_1187insGTC	XP_005267210.1:p.Ala396delinsGlyPro
XR_245553.2:n.1930_1931insGTC
NM_001346418.1:c.1186_1187insGTC	NP_001333347.1:p.Ala396delinsGlyPro
NM_031924.5:c.1474_1475insGTC	NP_114130.3:p.Ala492delinsGlyPro
NR_144434.1:n.1685_1686insGTC
XM_017011347.2:c.658_659insGTC	XP_016866836.1:p.Ala220delinsGlyPro
XM_024446566.1:c.658_659insGTC	XP_024302334.1:p.Ala220delinsGlyPro
XR_001743668.2:n.1924_1925insGTC
XR_001743669.2:n.1924_1925insGTC
XR_001743670.2:n.1636_1637insGTC
XR_001743671.2:n.1130_1131insGTC
NM_031924.6:c.1474_1475insGTC	NP_114130.3:p.Ala492delinsGlyPro
NM_031924.8:c.1048_1049insGTC MANE Select	NP_114130.4:p.Ala350delinsGlyPro