Canonical Allele Identifier: CA2167576459
Gene: GOLGA8H HGNC NCBI
DNM1P50 HGNC NCBI
ARHGAP11B-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30606343_30606345delinsACT , CM000677.2:g.30606343_30606345delinsACT GRCh38
NC_000015.9:g.30898546_30898548delinsACT , CM000677.1:g.30898546_30898548delinsACT GRCh37
NC_000015.8:g.28685838_28685840delinsACT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000566740.2:c.168+381_168+383delinsACT (GOLGA8H) MANE Select ENSP00000456894.1:n.168+381_168+383delinsACT
ENST00000566740.1:c.168+381_168+383delinsACT (GOLGA8H) ENSP00000456894.1:n.168+381_168+383delinsACT
NM_001282490.1:c.168+381_168+383delinsACT (GOLGA8H) NP_001269419.1:n.168+381_168+383delinsACT
XM_006720672.2:c.129+381_129+383delinsACT (GOLGA8H) XP_006720735.1:n.129+381_129+383delinsACT
XM_011521990.1:c.-286+381_-286+383delinsACT (GOLGA8H) XP_011520292.1:n.-286+381_-286+383delinsACT
XM_011522274.1:c.-308+1873_-308+1875delinsAGT (DNM1P50) XP_011520576.1:n.-308+1873_-308+1875delinsAGT
XM_011522275.1:c.-308+1873_-308+1875delinsAGT (DNM1P50) XP_011520577.1:n.-308+1873_-308+1875delinsAGT
XM_011522276.1:c.-308+1873_-308+1875delinsAGT (DNM1P50) XP_011520578.1:n.-308+1873_-308+1875delinsAGT
XM_011522278.1:c.-308+1873_-308+1875delinsAGT (DNM1P50) XP_011520580.1:n.-308+1873_-308+1875delinsAGT
XM_011522282.1:c.209+1873_209+1875delinsAGT (DNM1P50) XP_011520584.1:n.209+1873_209+1875delinsAGT
XM_011522283.1:c.209+1873_209+1875delinsAGT (DNM1P50) XP_011520585.1:n.209+1873_209+1875delinsAGT
XR_932037.1:n.1044+1873_1044+1875delinsAGT (DNM1P50)
XR_932039.1:n.1166+1873_1166+1875delinsAGT (DNM1P50)
XR_932042.1:n.786+1873_786+1875delinsAGT (DNM1P50)
XR_932043.1:n.707+18706_707+18708delinsAGT (DNM1P50)
XR_932044.1:n.708-12053_708-12051delinsAGT (DNM1P50)
XR_932045.1:n.707+18706_707+18708delinsAGT (DNM1P50)
NR_157593.1:n.851-12053_851-12051delinsAGT (ARHGAP11B-DT)
NR_157594.1:n.849+1873_849+1875delinsAGT (ARHGAP11B-DT)
NR_157595.1:n.513-12053_513-12051delinsAGT (ARHGAP11B-DT)
NM_001282490.2:c.168+381_168+383delinsACT (GOLGA8H) MANE Select NP_001269419.1:n.168+381_168+383delinsACT