Canonical Allele Identifier: CA308996925
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs943680589

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804062dup , CM000681.2:g.45804062dup GRCh38
NC_000019.9:g.46307320dup , CM000681.1:g.46307320dup GRCh37
NC_000019.8:g.50999160dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1653+198dup MANE Select ENSP00000221538.2:n.1653+198dup
ENST00000221538.7:c.1653+198dup ENSP00000221538.2:n.1653+198dup
ENST00000597055.1:c.1653+198dup ENSP00000472630.1:n.1653+198dup
ENST00000600188.5:c.861+198dup ENSP00000471559.1:n.861+198dup
NM_030785.3:c.1653+198dup NP_110412.1:n.1653+198dup
XM_011527351.1:c.1653+198dup XP_011525653.1:n.1653+198dup
XM_011527351.2:c.1653+198dup XP_011525653.1:n.1653+198dup
NM_030785.4:c.1653+198dup MANE Select NP_110412.1:n.1653+198dup