Canonical Allele Identifier: CA406404489

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1555791429
• MyVariant Identifiers: chr19:g.46307472_46307473insCC (hg19) ; chr19:g.45804214_45804215insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804215_45804216dup , CM000681.2:g.45804215_45804216dup	GRCh38
NC_000019.9:g.46307473_46307474dup , CM000681.1:g.46307473_46307474dup	GRCh37
NC_000019.8:g.50999313_50999314dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+36_1653+37dup MANE Select	ENSP00000221538.2:n.1653+36_1653+37dup
ENST00000221538.7:c.1653+36_1653+37dup	ENSP00000221538.2:n.1653+36_1653+37dup
ENST00000597055.1:c.1653+36_1653+37dup	ENSP00000472630.1:n.1653+36_1653+37dup
ENST00000600188.5:c.861+36_861+37dup	ENSP00000471559.1:n.861+36_861+37dup
NM_030785.3:c.1653+36_1653+37dup	NP_110412.1:n.1653+36_1653+37dup
XM_011527351.1:c.1653+36_1653+37dup	XP_011525653.1:n.1653+36_1653+37dup
XM_011527351.2:c.1653+36_1653+37dup	XP_011525653.1:n.1653+36_1653+37dup
NM_030785.4:c.1653+36_1653+37dup MANE Select	NP_110412.1:n.1653+36_1653+37dup