Canonical Allele Identifier: CA2582198547

Gene: RSPH6A

Linked Data

• gnomAD v3: 19-45803958-A-AAC
• gnomAD v4: 19-45803958-A-AAC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45803958_45803959insAC , CM000681.2:g.45803958_45803959insAC	GRCh38
NC_000019.9:g.46307216_46307217insAC , CM000681.1:g.46307216_46307217insAC	GRCh37
NC_000019.8:g.50999056_50999057insAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+293_1653+294insGT MANE Select	ENSP00000221538.2:n.1653+293_1653+294insGT
ENST00000221538.7:c.1653+293_1653+294insGT	ENSP00000221538.2:n.1653+293_1653+294insGT
ENST00000597055.1:c.1653+293_1653+294insGT	ENSP00000472630.1:n.1653+293_1653+294insGT
ENST00000600188.5:c.861+293_861+294insGT	ENSP00000471559.1:n.861+293_861+294insGT
NM_030785.3:c.1653+293_1653+294insGT	NP_110412.1:n.1653+293_1653+294insGT
XM_011527351.1:c.1653+293_1653+294insGT	XP_011525653.1:n.1653+293_1653+294insGT
XM_011527351.2:c.1653+293_1653+294insGT	XP_011525653.1:n.1653+293_1653+294insGT
NM_030785.4:c.1653+293_1653+294insGT MANE Select	NP_110412.1:n.1653+293_1653+294insGT