Canonical Allele Identifier: CA2338614822

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804022_45804031delinsGAAAAAGAAA , CM000681.2:g.45804022_45804031delinsGAAAAAGAAA	GRCh38
NC_000019.9:g.46307280_46307289delinsGAAAAAGAAA , CM000681.1:g.46307280_46307289delinsGAAAAAGAAA	GRCh37
NC_000019.8:g.50999120_50999129delinsGAAAAAGAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+221_1653+230delinsTTTCTTTTTC MANE Select	ENSP00000221538.2:n.1653+221_1653+230delinsTTTCTTTTTC
ENST00000221538.7:c.1653+221_1653+230delinsTTTCTTTTTC	ENSP00000221538.2:n.1653+221_1653+230delinsTTTCTTTTTC
ENST00000597055.1:c.1653+221_1653+230delinsTTTCTTTTTC	ENSP00000472630.1:n.1653+221_1653+230delinsTTTCTTTTTC
ENST00000600188.5:c.861+221_861+230delinsTTTCTTTTTC	ENSP00000471559.1:n.861+221_861+230delinsTTTCTTTTTC
NM_030785.3:c.1653+221_1653+230delinsTTTCTTTTTC	NP_110412.1:n.1653+221_1653+230delinsTTTCTTTTTC
XM_011527351.1:c.1653+221_1653+230delinsTTTCTTTTTC	XP_011525653.1:n.1653+221_1653+230delinsTTTCTTTTTC
XM_011527351.2:c.1653+221_1653+230delinsTTTCTTTTTC	XP_011525653.1:n.1653+221_1653+230delinsTTTCTTTTTC
NM_030785.4:c.1653+221_1653+230delinsTTTCTTTTTC MANE Select	NP_110412.1:n.1653+221_1653+230delinsTTTCTTTTTC