Canonical Allele Identifier: CA2585869023

Gene: RSPH6A

Linked Data

• gnomAD v4: 19-45804440-A-ACTTCTAGTCTAGAGTCAAGAGAGCTAAAAGAGGCCGGGTGCAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804440_45804441insCTTCTAGTCTAGAGTCAAGAGAGCTAAAAGAGGCCGGGTGCAGT , CM000681.2:g.45804440_45804441insCTTCTAGTCTAGAGTCAAGAGAGCTAAAAGAGGCCGGGTGCAGT	GRCh38
NC_000019.9:g.46307698_46307699insCTTCTAGTCTAGAGTCAAGAGAGCTAAAAGAGGCCGGGTGCAGT , CM000681.1:g.46307698_46307699insCTTCTAGTCTAGAGTCAAGAGAGCTAAAAGAGGCCGGGTGCAGT	GRCh37
NC_000019.8:g.50999538_50999539insCTTCTAGTCTAGAGTCAAGAGAGCTAAAAGAGGCCGGGTGCAGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1464_1465insACTGCACCCGGCCTCTTTTAGCTCTCTTGACTCTAGACTAGAAG MANE Select	ENSP00000221538.2:p.Ser489ThrfsTer7
ENST00000221538.7:c.1464_1465insACTGCACCCGGCCTCTTTTAGCTCTCTTGACTCTAGACTAGAAG	ENSP00000221538.2:p.Ser489ThrfsTer7
ENST00000597055.1:c.1464_1465insACTGCACCCGGCCTCTTTTAGCTCTCTTGACTCTAGACTAGAAG	ENSP00000472630.1:p.Ser489ThrfsTer7
ENST00000600188.5:c.672_673insACTGCACCCGGCCTCTTTTAGCTCTCTTGACTCTAGACTAGAAG	ENSP00000471559.1:p.Ser225ThrfsTer7
NM_030785.3:c.1464_1465insACTGCACCCGGCCTCTTTTAGCTCTCTTGACTCTAGACTAGAAG	NP_110412.1:p.Ser489ThrfsTer7
XM_011527351.1:c.1464_1465insACTGCACCCGGCCTCTTTTAGCTCTCTTGACTCTAGACTAGAAG	XP_011525653.1:p.Ser489ThrfsTer7
XM_011527351.2:c.1464_1465insACTGCACCCGGCCTCTTTTAGCTCTCTTGACTCTAGACTAGAAG	XP_011525653.1:p.Ser489ThrfsTer7
NM_030785.4:c.1464_1465insACTGCACCCGGCCTCTTTTAGCTCTCTTGACTCTAGACTAGAAG MANE Select	NP_110412.1:p.Ser489ThrfsTer7