Canonical Allele Identifier: CA2338615049

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804457_45804459delinsGCC , CM000681.2:g.45804457_45804459delinsGCC	GRCh38
NC_000019.9:g.46307715_46307717delinsGCC , CM000681.1:g.46307715_46307717delinsGCC	GRCh37
NC_000019.8:g.50999555_50999557delinsGCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1446_1448delinsGGC MANE Select	ENSP00000221538.2:p.Arg482=
ENST00000221538.7:c.1446_1448delinsGGC	ENSP00000221538.2:p.Arg482=
ENST00000597055.1:c.1446_1448delinsGGC	ENSP00000472630.1:p.Arg482=
ENST00000600188.5:c.654_656delinsGGC	ENSP00000471559.1:p.Arg218=
NM_030785.3:c.1446_1448delinsGGC	NP_110412.1:p.Arg482=
XM_011527351.1:c.1446_1448delinsGGC	XP_011525653.1:p.Arg482=
XM_011527351.2:c.1446_1448delinsGGC	XP_011525653.1:p.Arg482=
NM_030785.4:c.1446_1448delinsGGC MANE Select	NP_110412.1:p.Arg482=