Canonical Allele Identifier: CA633359329

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1193595450
• gnomAD v2: 19-46307188-TTGCAGTGAGCCGAGA-T
• gnomAD v3: 19-45803930-TTGCAGTGAGCCGAGA-T
• gnomAD v4: 19-45803930-TTGCAGTGAGCCGAGA-T
• MyVariant Identifiers: chr19:g.46307189_46307203del (hg19) ; chr19:g.45803931_45803945del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45803932_45803946del , CM000681.2:g.45803932_45803946del	GRCh38
NC_000019.9:g.46307190_46307204del , CM000681.1:g.46307190_46307204del	GRCh37
NC_000019.8:g.50999030_50999044del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+307_1653+321del MANE Select	ENSP00000221538.2:n.1653+307_1653+321del
ENST00000221538.7:c.1653+307_1653+321del	ENSP00000221538.2:n.1653+307_1653+321del
ENST00000597055.1:c.1653+307_1653+321del	ENSP00000472630.1:n.1653+307_1653+321del
ENST00000600188.5:c.861+307_861+321del	ENSP00000471559.1:n.861+307_861+321del
NM_030785.3:c.1653+307_1653+321del	NP_110412.1:n.1653+307_1653+321del
XM_011527351.1:c.1653+307_1653+321del	XP_011525653.1:n.1653+307_1653+321del
XM_011527351.2:c.1653+307_1653+321del	XP_011525653.1:n.1653+307_1653+321del
NM_030785.4:c.1653+307_1653+321del MANE Select	NP_110412.1:n.1653+307_1653+321del