Canonical Allele Identifier: CA1096426685

Gene: RSPH3

Linked Data

• gnomAD v3: 6-158982503-C-CT
• gnomAD v4: 6-158982503-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158982503_158982504insT , CM000668.2:g.158982503_158982504insT	GRCh38
NC_000006.11:g.159403535_159403536insT , CM000668.1:g.159403535_159403536insT	GRCh37
NC_000006.10:g.159323523_159323524insT	NCBI36
NG_051819.1:g.22684_22685insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000367069.7:c.677_678insA MANE Select	ENSP00000356036.1:p.Arg227AlafsTer10
ENST00000252655.1:c.1103_1104insA	ENSP00000252655.1:p.Arg369AlafsTer10
ENST00000367069.6:c.677_678insA	ENSP00000356036.1:p.Arg227AlafsTer10
ENST00000449822.5:c.389_390insA	ENSP00000393195.1:p.Arg131AlafsTer10
NM_031924.4:c.1103_1104insA	NP_114130.3:p.Arg369AlafsTer10
XM_005267153.3:c.815_816insA	XP_005267210.1:p.Arg273AlafsTer10
XR_245553.2:n.1559_1560insA
NM_001346418.1:c.815_816insA	NP_001333347.1:p.Arg273AlafsTer10
NM_031924.5:c.1103_1104insA	NP_114130.3:p.Arg369AlafsTer10
NR_144434.1:n.1314_1315insA
XM_017011347.2:c.287_288insA	XP_016866836.1:p.Arg97AlafsTer10
XM_024446566.1:c.287_288insA	XP_024302334.1:p.Arg97AlafsTer10
XR_001743668.2:n.1553_1554insA
XR_001743669.2:n.1553_1554insA
XR_001743670.2:n.1265_1266insA
XR_001743671.2:n.759_760insA
NM_031924.6:c.1103_1104insA	NP_114130.3:p.Arg369AlafsTer10
NM_031924.8:c.677_678insA MANE Select	NP_114130.4:p.Arg227AlafsTer10