Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30606449_30606451delinsCCT , CM000677.2:g.30606449_30606451delinsCCT	GRCh38
NC_000015.9:g.30898652_30898654delinsCCT , CM000677.1:g.30898652_30898654delinsCCT	GRCh37
NC_000015.8:g.28685944_28685946delinsCCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000566740.2:c.169-406_169-404delinsCCT (GOLGA8H) MANE Select	ENSP00000456894.1:n.169-406_169-404delinsCCT
ENST00000566740.1:c.169-406_169-404delinsCCT (GOLGA8H)	ENSP00000456894.1:n.169-406_169-404delinsCCT
NM_001282490.1:c.169-406_169-404delinsCCT (GOLGA8H)	NP_001269419.1:n.169-406_169-404delinsCCT
XM_006720672.2:c.130-406_130-404delinsCCT (GOLGA8H)	XP_006720735.1:n.130-406_130-404delinsCCT
XM_011521990.1:c.-285-406_-285-404delinsCCT (GOLGA8H)	XP_011520292.1:n.-285-406_-285-404delinsCCT
XM_011522274.1:c.-308+1767_-308+1769delinsAGG (DNM1P50)	XP_011520576.1:n.-308+1767_-308+1769delinsAGG
XM_011522275.1:c.-308+1767_-308+1769delinsAGG (DNM1P50)	XP_011520577.1:n.-308+1767_-308+1769delinsAGG
XM_011522276.1:c.-308+1767_-308+1769delinsAGG (DNM1P50)	XP_011520578.1:n.-308+1767_-308+1769delinsAGG
XM_011522278.1:c.-308+1767_-308+1769delinsAGG (DNM1P50)	XP_011520580.1:n.-308+1767_-308+1769delinsAGG
XM_011522282.1:c.209+1767_209+1769delinsAGG (DNM1P50)	XP_011520584.1:n.209+1767_209+1769delinsAGG
XM_011522283.1:c.209+1767_209+1769delinsAGG (DNM1P50)	XP_011520585.1:n.209+1767_209+1769delinsAGG
XR_932037.1:n.1044+1767_1044+1769delinsAGG (DNM1P50)
XR_932039.1:n.1166+1767_1166+1769delinsAGG (DNM1P50)
XR_932042.1:n.786+1767_786+1769delinsAGG (DNM1P50)
XR_932043.1:n.707+18600_707+18602delinsAGG (DNM1P50)
XR_932044.1:n.708-12159_708-12157delinsAGG (DNM1P50)
XR_932045.1:n.707+18600_707+18602delinsAGG (DNM1P50)
NR_157593.1:n.851-12159_851-12157delinsAGG (ARHGAP11B-DT)
NR_157594.1:n.849+1767_849+1769delinsAGG (ARHGAP11B-DT)
NR_157595.1:n.513-12159_513-12157delinsAGG (ARHGAP11B-DT)
NM_001282490.2:c.169-406_169-404delinsCCT (GOLGA8H) MANE Select	NP_001269419.1:n.169-406_169-404delinsCCT