Canonical Allele Identifier: CA2814566568

Gene: RSPH6A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804021_45804022insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAA , CM000681.2:g.45804021_45804022insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAA	GRCh38
NC_000019.9:g.46307279_46307280insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAA , CM000681.1:g.46307279_46307280insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAA	GRCh37
NC_000019.8:g.50999119_50999120insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000221538.2:n.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTT...
ENST00000221538.7:c.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000221538.2:n.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTT...
ENST00000597055.1:c.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000472630.1:n.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTT...
ENST00000600188.5:c.861+234_861+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000471559.1:n.861+234_861+235insTTTTTCTTTTTTTTTTTTTTTTT...
NM_030785.3:c.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_110412.1:n.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTTTTT...
XM_011527351.1:c.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011525653.1:n.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTT...
XM_011527351.2:c.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011525653.1:n.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTT...
NM_030785.4:c.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_110412.1:n.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTTTTT...