Canonical Allele Identifier: CA996342780

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1970505986
• gnomAD v3: 19-45803992-T-TA
• gnomAD v4: 19-45803992-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45803992_45803993insA , CM000681.2:g.45803992_45803993insA	GRCh38
NC_000019.9:g.46307250_46307251insA , CM000681.1:g.46307250_46307251insA	GRCh37
NC_000019.8:g.50999090_50999091insA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+259_1653+260insT MANE Select	ENSP00000221538.2:n.1653+259_1653+260insT
ENST00000221538.7:c.1653+259_1653+260insT	ENSP00000221538.2:n.1653+259_1653+260insT
ENST00000597055.1:c.1653+259_1653+260insT	ENSP00000472630.1:n.1653+259_1653+260insT
ENST00000600188.5:c.861+259_861+260insT	ENSP00000471559.1:n.861+259_861+260insT
NM_030785.3:c.1653+259_1653+260insT	NP_110412.1:n.1653+259_1653+260insT
XM_011527351.1:c.1653+259_1653+260insT	XP_011525653.1:n.1653+259_1653+260insT
XM_011527351.2:c.1653+259_1653+260insT	XP_011525653.1:n.1653+259_1653+260insT
NM_030785.4:c.1653+259_1653+260insT MANE Select	NP_110412.1:n.1653+259_1653+260insT