Canonical Allele Identifier: CA996342908

Gene: RSPH6A

Linked Data

• dbSNP Id: rs2146284415
• gnomAD v3: 19-45804006-AG-A
• gnomAD v4: 19-45804006-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804007del , CM000681.2:g.45804007del	GRCh38
NC_000019.9:g.46307265del , CM000681.1:g.46307265del	GRCh37
NC_000019.8:g.50999105del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+245del MANE Select	ENSP00000221538.2:n.1653+245del
ENST00000221538.7:c.1653+245del	ENSP00000221538.2:n.1653+245del
ENST00000597055.1:c.1653+245del	ENSP00000472630.1:n.1653+245del
ENST00000600188.5:c.861+245del	ENSP00000471559.1:n.861+245del
NM_030785.3:c.1653+245del	NP_110412.1:n.1653+245del
XM_011527351.1:c.1653+245del	XP_011525653.1:n.1653+245del
XM_011527351.2:c.1653+245del	XP_011525653.1:n.1653+245del
NM_030785.4:c.1653+245del MANE Select	NP_110412.1:n.1653+245del