Canonical Allele Identifier: CA882762698
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs1200312129

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45803998_45803999insGA , CM000681.2:g.45803998_45803999insGA GRCh38
NC_000019.9:g.46307256_46307257insGA , CM000681.1:g.46307256_46307257insGA GRCh37
NC_000019.8:g.50999096_50999097insGA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1653+254_1653+255insCT MANE Select ENSP00000221538.2:n.1653+254_1653+255insCT
ENST00000221538.7:c.1653+254_1653+255insCT ENSP00000221538.2:n.1653+254_1653+255insCT
ENST00000597055.1:c.1653+254_1653+255insCT ENSP00000472630.1:n.1653+254_1653+255insCT
ENST00000600188.5:c.861+254_861+255insCT ENSP00000471559.1:n.861+254_861+255insCT
NM_030785.3:c.1653+254_1653+255insCT NP_110412.1:n.1653+254_1653+255insCT
XM_011527351.1:c.1653+254_1653+255insCT XP_011525653.1:n.1653+254_1653+255insCT
XM_011527351.2:c.1653+254_1653+255insCT XP_011525653.1:n.1653+254_1653+255insCT
NM_030785.4:c.1653+254_1653+255insCT MANE Select NP_110412.1:n.1653+254_1653+255insCT