Canonical Allele Identifier: CA2338614826

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804024_45804028delinsAAAAG , CM000681.2:g.45804024_45804028delinsAAAAG	GRCh38
NC_000019.9:g.46307282_46307286delinsAAAAG , CM000681.1:g.46307282_46307286delinsAAAAG	GRCh37
NC_000019.8:g.50999122_50999126delinsAAAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+224_1653+228delinsCTTTT MANE Select	ENSP00000221538.2:n.1653+224_1653+228delinsCTTTT
ENST00000221538.7:c.1653+224_1653+228delinsCTTTT	ENSP00000221538.2:n.1653+224_1653+228delinsCTTTT
ENST00000597055.1:c.1653+224_1653+228delinsCTTTT	ENSP00000472630.1:n.1653+224_1653+228delinsCTTTT
ENST00000600188.5:c.861+224_861+228delinsCTTTT	ENSP00000471559.1:n.861+224_861+228delinsCTTTT
NM_030785.3:c.1653+224_1653+228delinsCTTTT	NP_110412.1:n.1653+224_1653+228delinsCTTTT
XM_011527351.1:c.1653+224_1653+228delinsCTTTT	XP_011525653.1:n.1653+224_1653+228delinsCTTTT
XM_011527351.2:c.1653+224_1653+228delinsCTTTT	XP_011525653.1:n.1653+224_1653+228delinsCTTTT
NM_030785.4:c.1653+224_1653+228delinsCTTTT MANE Select	NP_110412.1:n.1653+224_1653+228delinsCTTTT