Canonical Allele Identifier: CA2338614829

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804028_45804031delinsGAAA , CM000681.2:g.45804028_45804031delinsGAAA	GRCh38
NC_000019.9:g.46307286_46307289delinsGAAA , CM000681.1:g.46307286_46307289delinsGAAA	GRCh37
NC_000019.8:g.50999126_50999129delinsGAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+221_1653+224delinsTTTC MANE Select	ENSP00000221538.2:n.1653+221_1653+224delinsTTTC
ENST00000221538.7:c.1653+221_1653+224delinsTTTC	ENSP00000221538.2:n.1653+221_1653+224delinsTTTC
ENST00000597055.1:c.1653+221_1653+224delinsTTTC	ENSP00000472630.1:n.1653+221_1653+224delinsTTTC
ENST00000600188.5:c.861+221_861+224delinsTTTC	ENSP00000471559.1:n.861+221_861+224delinsTTTC
NM_030785.3:c.1653+221_1653+224delinsTTTC	NP_110412.1:n.1653+221_1653+224delinsTTTC
XM_011527351.1:c.1653+221_1653+224delinsTTTC	XP_011525653.1:n.1653+221_1653+224delinsTTTC
XM_011527351.2:c.1653+221_1653+224delinsTTTC	XP_011525653.1:n.1653+221_1653+224delinsTTTC
NM_030785.4:c.1653+221_1653+224delinsTTTC MANE Select	NP_110412.1:n.1653+221_1653+224delinsTTTC