Canonical Allele Identifier: CA2582198549

Gene: RSPH6A

Linked Data

• gnomAD v3: 19-45804061-A-AT
• gnomAD v4: 19-45804061-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804061_45804062insT , CM000681.2:g.45804061_45804062insT	GRCh38
NC_000019.9:g.46307319_46307320insT , CM000681.1:g.46307319_46307320insT	GRCh37
NC_000019.8:g.50999159_50999160insT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+190_1653+191insA MANE Select	ENSP00000221538.2:n.1653+190_1653+191insA
ENST00000221538.7:c.1653+190_1653+191insA	ENSP00000221538.2:n.1653+190_1653+191insA
ENST00000597055.1:c.1653+190_1653+191insA	ENSP00000472630.1:n.1653+190_1653+191insA
ENST00000600188.5:c.861+190_861+191insA	ENSP00000471559.1:n.861+190_861+191insA
NM_030785.3:c.1653+190_1653+191insA	NP_110412.1:n.1653+190_1653+191insA
XM_011527351.1:c.1653+190_1653+191insA	XP_011525653.1:n.1653+190_1653+191insA
XM_011527351.2:c.1653+190_1653+191insA	XP_011525653.1:n.1653+190_1653+191insA
NM_030785.4:c.1653+190_1653+191insA MANE Select	NP_110412.1:n.1653+190_1653+191insA