Canonical Allele Identifier: CA2338614810

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804002_45804012delinsAAAAAGAAAAG , CM000681.2:g.45804002_45804012delinsAAAAAGAAAAG	GRCh38
NC_000019.9:g.46307260_46307270delinsAAAAAGAAAAG , CM000681.1:g.46307260_46307270delinsAAAAAGAAAAG	GRCh37
NC_000019.8:g.50999100_50999110delinsAAAAAGAAAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+240_1653+250delinsCTTTTCTTTTT MANE Select	ENSP00000221538.2:n.1653+240_1653+250delinsCTTTTCTTTTT
ENST00000221538.7:c.1653+240_1653+250delinsCTTTTCTTTTT	ENSP00000221538.2:n.1653+240_1653+250delinsCTTTTCTTTTT
ENST00000597055.1:c.1653+240_1653+250delinsCTTTTCTTTTT	ENSP00000472630.1:n.1653+240_1653+250delinsCTTTTCTTTTT
ENST00000600188.5:c.861+240_861+250delinsCTTTTCTTTTT	ENSP00000471559.1:n.861+240_861+250delinsCTTTTCTTTTT
NM_030785.3:c.1653+240_1653+250delinsCTTTTCTTTTT	NP_110412.1:n.1653+240_1653+250delinsCTTTTCTTTTT
XM_011527351.1:c.1653+240_1653+250delinsCTTTTCTTTTT	XP_011525653.1:n.1653+240_1653+250delinsCTTTTCTTTTT
XM_011527351.2:c.1653+240_1653+250delinsCTTTTCTTTTT	XP_011525653.1:n.1653+240_1653+250delinsCTTTTCTTTTT
NM_030785.4:c.1653+240_1653+250delinsCTTTTCTTTTT MANE Select	NP_110412.1:n.1653+240_1653+250delinsCTTTTCTTTTT