Canonical Allele Identifier: CA2338614814

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804004_45804012delinsAAAGAAAAG , CM000681.2:g.45804004_45804012delinsAAAGAAAAG	GRCh38
NC_000019.9:g.46307262_46307270delinsAAAGAAAAG , CM000681.1:g.46307262_46307270delinsAAAGAAAAG	GRCh37
NC_000019.8:g.50999102_50999110delinsAAAGAAAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+240_1653+248delinsCTTTTCTTT MANE Select	ENSP00000221538.2:n.1653+240_1653+248delinsCTTTTCTTT
ENST00000221538.7:c.1653+240_1653+248delinsCTTTTCTTT	ENSP00000221538.2:n.1653+240_1653+248delinsCTTTTCTTT
ENST00000597055.1:c.1653+240_1653+248delinsCTTTTCTTT	ENSP00000472630.1:n.1653+240_1653+248delinsCTTTTCTTT
ENST00000600188.5:c.861+240_861+248delinsCTTTTCTTT	ENSP00000471559.1:n.861+240_861+248delinsCTTTTCTTT
NM_030785.3:c.1653+240_1653+248delinsCTTTTCTTT	NP_110412.1:n.1653+240_1653+248delinsCTTTTCTTT
XM_011527351.1:c.1653+240_1653+248delinsCTTTTCTTT	XP_011525653.1:n.1653+240_1653+248delinsCTTTTCTTT
XM_011527351.2:c.1653+240_1653+248delinsCTTTTCTTT	XP_011525653.1:n.1653+240_1653+248delinsCTTTTCTTT
NM_030785.4:c.1653+240_1653+248delinsCTTTTCTTT MANE Select	NP_110412.1:n.1653+240_1653+248delinsCTTTTCTTT