Canonical Allele Identifier: CA996342821

Gene: RSPH6A

Linked Data

• gnomAD v3: 19-45803993-C-CAAAAAAAAAAAA
• gnomAD v4: 19-45803993-C-CAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45803995_45804006dup , CM000681.2:g.45803995_45804006dup	GRCh38
NC_000019.9:g.46307253_46307264dup , CM000681.1:g.46307253_46307264dup	GRCh37
NC_000019.8:g.50999093_50999104dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+247_1653+258dup MANE Select	ENSP00000221538.2:n.1653+247_1653+258dup
ENST00000221538.7:c.1653+247_1653+258dup	ENSP00000221538.2:n.1653+247_1653+258dup
ENST00000597055.1:c.1653+247_1653+258dup	ENSP00000472630.1:n.1653+247_1653+258dup
ENST00000600188.5:c.861+247_861+258dup	ENSP00000471559.1:n.861+247_861+258dup
NM_030785.3:c.1653+247_1653+258dup	NP_110412.1:n.1653+247_1653+258dup
XM_011527351.1:c.1653+247_1653+258dup	XP_011525653.1:n.1653+247_1653+258dup
XM_011527351.2:c.1653+247_1653+258dup	XP_011525653.1:n.1653+247_1653+258dup
NM_030785.4:c.1653+247_1653+258dup MANE Select	NP_110412.1:n.1653+247_1653+258dup