Canonical Allele Identifier: CA996342942

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1437636322
• gnomAD v3: 19-45804028-GAAA-G
• gnomAD v4: 19-45804028-GAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804034_45804036del , CM000681.2:g.45804034_45804036del	GRCh38
NC_000019.9:g.46307292_46307294del , CM000681.1:g.46307292_46307294del	GRCh37
NC_000019.8:g.50999132_50999134del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+221_1653+223del MANE Select	ENSP00000221538.2:n.1653+221_1653+223del
ENST00000221538.7:c.1653+221_1653+223del	ENSP00000221538.2:n.1653+221_1653+223del
ENST00000597055.1:c.1653+221_1653+223del	ENSP00000472630.1:n.1653+221_1653+223del
ENST00000600188.5:c.861+221_861+223del	ENSP00000471559.1:n.861+221_861+223del
NM_030785.3:c.1653+221_1653+223del	NP_110412.1:n.1653+221_1653+223del
XM_011527351.1:c.1653+221_1653+223del	XP_011525653.1:n.1653+221_1653+223del
XM_011527351.2:c.1653+221_1653+223del	XP_011525653.1:n.1653+221_1653+223del
NM_030785.4:c.1653+221_1653+223del MANE Select	NP_110412.1:n.1653+221_1653+223del