Canonical Allele Identifier: CA882762772

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1457413087
• MyVariant Identifiers: chr19:g.46307283_46307286del (hg19) ; chr19:g.45804025_45804028del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804028_45804031del , CM000681.2:g.45804028_45804031del	GRCh38
NC_000019.9:g.46307286_46307289del , CM000681.1:g.46307286_46307289del	GRCh37
NC_000019.8:g.50999126_50999129del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+224_1653+227del MANE Select	ENSP00000221538.2:n.1653+224_1653+227del
ENST00000221538.7:c.1653+224_1653+227del	ENSP00000221538.2:n.1653+224_1653+227del
ENST00000597055.1:c.1653+224_1653+227del	ENSP00000472630.1:n.1653+224_1653+227del
ENST00000600188.5:c.861+224_861+227del	ENSP00000471559.1:n.861+224_861+227del
NM_030785.3:c.1653+224_1653+227del	NP_110412.1:n.1653+224_1653+227del
XM_011527351.1:c.1653+224_1653+227del	XP_011525653.1:n.1653+224_1653+227del
XM_011527351.2:c.1653+224_1653+227del	XP_011525653.1:n.1653+224_1653+227del
NM_030785.4:c.1653+224_1653+227del MANE Select	NP_110412.1:n.1653+224_1653+227del