Canonical Allele Identifier: CA996342593

Gene: RSPH6A

Linked Data

• gnomAD v3: 19-45803903-C-CAAG
• gnomAD v4: 19-45803903-C-CAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45803905_45803906insGAA , CM000681.2:g.45803905_45803906insGAA	GRCh38
NC_000019.9:g.46307163_46307164insGAA , CM000681.1:g.46307163_46307164insGAA	GRCh37
NC_000019.8:g.50999003_50999004insGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+348_1653+349insCTT MANE Select	ENSP00000221538.2:n.1653+348_1653+349insCTT
ENST00000221538.7:c.1653+348_1653+349insCTT	ENSP00000221538.2:n.1653+348_1653+349insCTT
ENST00000597055.1:c.1653+348_1653+349insCTT	ENSP00000472630.1:n.1653+348_1653+349insCTT
ENST00000600188.5:c.861+348_861+349insCTT	ENSP00000471559.1:n.861+348_861+349insCTT
NM_030785.3:c.1653+348_1653+349insCTT	NP_110412.1:n.1653+348_1653+349insCTT
XM_011527351.1:c.1653+348_1653+349insCTT	XP_011525653.1:n.1653+348_1653+349insCTT
XM_011527351.2:c.1653+348_1653+349insCTT	XP_011525653.1:n.1653+348_1653+349insCTT
NM_030785.4:c.1653+348_1653+349insCTT MANE Select	NP_110412.1:n.1653+348_1653+349insCTT