Canonical Allele Identifier: CA2551172119

Gene: GOLGA8H DNM1P50 ARHGAP11B-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30606395_30606396del , CM000677.2:g.30606395_30606396del	GRCh38
NC_000015.9:g.30898598_30898599del , CM000677.1:g.30898598_30898599del	GRCh37
NC_000015.8:g.28685890_28685891del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000566740.2:c.168+433_168+434del (GOLGA8H) MANE Select	ENSP00000456894.1:n.168+433_168+434del
ENST00000566740.1:c.168+433_168+434del (GOLGA8H)	ENSP00000456894.1:n.168+433_168+434del
NM_001282490.1:c.168+433_168+434del (GOLGA8H)	NP_001269419.1:n.168+433_168+434del
XM_006720672.2:c.129+433_129+434del (GOLGA8H)	XP_006720735.1:n.129+433_129+434del
XM_011521990.1:c.-286+433_-286+434del (GOLGA8H)	XP_011520292.1:n.-286+433_-286+434del
XM_011522274.1:c.-308+1825_-308+1826del (DNM1P50)	XP_011520576.1:n.-308+1825_-308+1826del
XM_011522275.1:c.-308+1825_-308+1826del (DNM1P50)	XP_011520577.1:n.-308+1825_-308+1826del
XM_011522276.1:c.-308+1825_-308+1826del (DNM1P50)	XP_011520578.1:n.-308+1825_-308+1826del
XM_011522278.1:c.-308+1825_-308+1826del (DNM1P50)	XP_011520580.1:n.-308+1825_-308+1826del
XM_011522282.1:c.209+1825_209+1826del (DNM1P50)	XP_011520584.1:n.209+1825_209+1826del
XM_011522283.1:c.209+1825_209+1826del (DNM1P50)	XP_011520585.1:n.209+1825_209+1826del
XR_932037.1:n.1044+1825_1044+1826del (DNM1P50)
XR_932039.1:n.1166+1825_1166+1826del (DNM1P50)
XR_932042.1:n.786+1825_786+1826del (DNM1P50)
XR_932043.1:n.707+18658_707+18659del (DNM1P50)
XR_932044.1:n.708-12101_708-12100del (DNM1P50)
XR_932045.1:n.707+18658_707+18659del (DNM1P50)
NR_157593.1:n.851-12101_851-12100del (ARHGAP11B-DT)
NR_157594.1:n.849+1825_849+1826del (ARHGAP11B-DT)
NR_157595.1:n.513-12101_513-12100del (ARHGAP11B-DT)
NM_001282490.2:c.168+433_168+434del (GOLGA8H) MANE Select	NP_001269419.1:n.168+433_168+434del