Canonical Allele Identifier: CA633359328

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1430136853
• gnomAD v2: 19-46307182-TGGA-T
• gnomAD v3: 19-45803924-TGGA-T
• gnomAD v4: 19-45803924-TGGA-T
• MyVariant Identifiers: chr19:g.46307183_46307185del (hg19) ; chr19:g.45803925_45803927del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45803927_45803929del , CM000681.2:g.45803927_45803929del	GRCh38
NC_000019.9:g.46307185_46307187del , CM000681.1:g.46307185_46307187del	GRCh37
NC_000019.8:g.50999025_50999027del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+325_1653+327del MANE Select	ENSP00000221538.2:n.1653+325_1653+327del
ENST00000221538.7:c.1653+325_1653+327del	ENSP00000221538.2:n.1653+325_1653+327del
ENST00000597055.1:c.1653+325_1653+327del	ENSP00000472630.1:n.1653+325_1653+327del
ENST00000600188.5:c.861+325_861+327del	ENSP00000471559.1:n.861+325_861+327del
NM_030785.3:c.1653+325_1653+327del	NP_110412.1:n.1653+325_1653+327del
XM_011527351.1:c.1653+325_1653+327del	XP_011525653.1:n.1653+325_1653+327del
XM_011527351.2:c.1653+325_1653+327del	XP_011525653.1:n.1653+325_1653+327del
NM_030785.4:c.1653+325_1653+327del MANE Select	NP_110412.1:n.1653+325_1653+327del