Canonical Allele Identifier: CA633359339

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1970505986
• gnomAD v2: 19-46307250-T-TAA
• gnomAD v3: 19-45803992-T-TAA
• gnomAD v4: 19-45803992-T-TAA
• MyVariant Identifiers: chr19:g.46307251delinsAAC (hg19) ; chr19:g.45803993delinsAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45803992_45803993insAA , CM000681.2:g.45803992_45803993insAA	GRCh38
NC_000019.9:g.46307250_46307251insAA , CM000681.1:g.46307250_46307251insAA	GRCh37
NC_000019.8:g.50999090_50999091insAA	NCBI36

Transcript Alleles

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