Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30606454_30606456delinsCTT , CM000677.2:g.30606454_30606456delinsCTT	GRCh38
NC_000015.9:g.30898657_30898659delinsCTT , CM000677.1:g.30898657_30898659delinsCTT	GRCh37
NC_000015.8:g.28685949_28685951delinsCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000566740.2:c.169-401_169-399delinsCTT (GOLGA8H) MANE Select	ENSP00000456894.1:n.169-401_169-399delinsCTT
ENST00000566740.1:c.169-401_169-399delinsCTT (GOLGA8H)	ENSP00000456894.1:n.169-401_169-399delinsCTT
NM_001282490.1:c.169-401_169-399delinsCTT (GOLGA8H)	NP_001269419.1:n.169-401_169-399delinsCTT
XM_006720672.2:c.130-401_130-399delinsCTT (GOLGA8H)	XP_006720735.1:n.130-401_130-399delinsCTT
XM_011521990.1:c.-285-401_-285-399delinsCTT (GOLGA8H)	XP_011520292.1:n.-285-401_-285-399delinsCTT
XM_011522274.1:c.-308+1762_-308+1764delinsAAG (DNM1P50)	XP_011520576.1:n.-308+1762_-308+1764delinsAAG
XM_011522275.1:c.-308+1762_-308+1764delinsAAG (DNM1P50)	XP_011520577.1:n.-308+1762_-308+1764delinsAAG
XM_011522276.1:c.-308+1762_-308+1764delinsAAG (DNM1P50)	XP_011520578.1:n.-308+1762_-308+1764delinsAAG
XM_011522278.1:c.-308+1762_-308+1764delinsAAG (DNM1P50)	XP_011520580.1:n.-308+1762_-308+1764delinsAAG
XM_011522282.1:c.209+1762_209+1764delinsAAG (DNM1P50)	XP_011520584.1:n.209+1762_209+1764delinsAAG
XM_011522283.1:c.209+1762_209+1764delinsAAG (DNM1P50)	XP_011520585.1:n.209+1762_209+1764delinsAAG
XR_932037.1:n.1044+1762_1044+1764delinsAAG (DNM1P50)
XR_932039.1:n.1166+1762_1166+1764delinsAAG (DNM1P50)
XR_932042.1:n.786+1762_786+1764delinsAAG (DNM1P50)
XR_932043.1:n.707+18595_707+18597delinsAAG (DNM1P50)
XR_932044.1:n.708-12164_708-12162delinsAAG (DNM1P50)
XR_932045.1:n.707+18595_707+18597delinsAAG (DNM1P50)
NR_157593.1:n.851-12164_851-12162delinsAAG (ARHGAP11B-DT)
NR_157594.1:n.849+1762_849+1764delinsAAG (ARHGAP11B-DT)
NR_157595.1:n.513-12164_513-12162delinsAAG (ARHGAP11B-DT)
NM_001282490.2:c.169-401_169-399delinsCTT (GOLGA8H) MANE Select	NP_001269419.1:n.169-401_169-399delinsCTT