Canonical Allele Identifier: CA2167576744
Gene: GOLGA8H HGNC NCBI
DNM1P50 HGNC NCBI
ARHGAP11B-DT HGNC NCBI

Linked Data

dbSNP Id: rs2059925521

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30606457_30606458del , CM000677.2:g.30606457_30606458del GRCh38
NC_000015.9:g.30898660_30898661del , CM000677.1:g.30898660_30898661del GRCh37
NC_000015.8:g.28685952_28685953del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000566740.2:c.169-398_169-397del (GOLGA8H) MANE Select ENSP00000456894.1:n.169-398_169-397del
ENST00000566740.1:c.169-398_169-397del (GOLGA8H) ENSP00000456894.1:n.169-398_169-397del
NM_001282490.1:c.169-398_169-397del (GOLGA8H) NP_001269419.1:n.169-398_169-397del
XM_006720672.2:c.130-398_130-397del (GOLGA8H) XP_006720735.1:n.130-398_130-397del
XM_011521990.1:c.-285-398_-285-397del (GOLGA8H) XP_011520292.1:n.-285-398_-285-397del
XM_011522274.1:c.-308+1762_-308+1763del (DNM1P50) XP_011520576.1:n.-308+1762_-308+1763del
XM_011522275.1:c.-308+1762_-308+1763del (DNM1P50) XP_011520577.1:n.-308+1762_-308+1763del
XM_011522276.1:c.-308+1762_-308+1763del (DNM1P50) XP_011520578.1:n.-308+1762_-308+1763del
XM_011522278.1:c.-308+1762_-308+1763del (DNM1P50) XP_011520580.1:n.-308+1762_-308+1763del
XM_011522282.1:c.209+1762_209+1763del (DNM1P50) XP_011520584.1:n.209+1762_209+1763del
XM_011522283.1:c.209+1762_209+1763del (DNM1P50) XP_011520585.1:n.209+1762_209+1763del
XR_932037.1:n.1044+1762_1044+1763del (DNM1P50)
XR_932039.1:n.1166+1762_1166+1763del (DNM1P50)
XR_932042.1:n.786+1762_786+1763del (DNM1P50)
XR_932043.1:n.707+18595_707+18596del (DNM1P50)
XR_932044.1:n.708-12164_708-12163del (DNM1P50)
XR_932045.1:n.707+18595_707+18596del (DNM1P50)
NR_157593.1:n.851-12164_851-12163del (ARHGAP11B-DT)
NR_157594.1:n.849+1762_849+1763del (ARHGAP11B-DT)
NR_157595.1:n.513-12164_513-12163del (ARHGAP11B-DT)
NM_001282490.2:c.169-398_169-397del (GOLGA8H) MANE Select NP_001269419.1:n.169-398_169-397del