Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12907048_12907051dup , CM000686.2:g.12907048_12907051dup	GRCh38
NC_000024.9:g.15018959_15018962dup , CM000686.1:g.15018959_15018962dup	GRCh37
NC_000024.8:g.13528353_13528356dup	NCBI36
NG_012831.1:g.7941_7944dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336079.8:c.46-489_46-486dup MANE Select	ENSP00000336725.3:n.46-489_46-486dup
ENST00000336079.7:c.46-489_46-486dup	ENSP00000336725.3:n.46-489_46-486dup
ENST00000360160.8:c.46-489_46-486dup	ENSP00000353284.4:n.46-489_46-486dup
ENST00000440554.1:c.37-489_37-486dup	ENSP00000400377.1:n.37-489_37-486dup
ENST00000454054.5:c.46-489_46-486dup	ENSP00000398953.1:n.46-489_46-486dup
ENST00000493363.1:n.134-489_134-486dup
NM_001122665.2:c.46-489_46-486dup	NP_001116137.1:n.46-489_46-486dup
NM_001302552.1:c.37-489_37-486dup	NP_001289481.1:n.37-489_37-486dup
NM_004660.4:c.46-489_46-486dup	NP_004651.2:n.46-489_46-486dup
XM_006724878.1:c.46-489_46-486dup	XP_006724941.1:n.46-489_46-486dup
XM_011531471.1:c.46-489_46-486dup	XP_011529773.1:n.46-489_46-486dup
NM_001122665.3:c.46-489_46-486dup	NP_001116137.1:n.46-489_46-486dup
NM_001302552.2:c.37-489_37-486dup	NP_001289481.1:n.37-489_37-486dup
NM_001324195.1:c.46-489_46-486dup	NP_001311124.1:n.46-489_46-486dup
NR_136716.1:n.197-489_197-486dup
NR_136717.1:n.197-489_197-486dup
NR_136718.1:n.197-489_197-486dup
NR_136719.1:n.197-489_197-486dup
NR_136720.1:n.197-489_197-486dup
NR_136721.1:n.125-489_125-486dup
NR_136722.1:n.112-489_112-486dup
NR_136723.1:n.112-489_112-486dup
NR_136724.1:n.112-489_112-486dup
XR_001756014.2:n.150-489_150-486dup
NM_004660.5:c.46-489_46-486dup MANE Select	NP_004651.2:n.46-489_46-486dup
NM_001302552.3:c.37-489_37-486dup	NP_001289481.1:n.37-489_37-486dup
NM_001324195.2:c.46-489_46-486dup	NP_001311124.1:n.46-489_46-486dup
NR_136716.2:n.115-489_115-486dup
NR_136717.2:n.115-489_115-486dup
NR_136718.2:n.115-489_115-486dup
NR_136719.2:n.115-489_115-486dup
NR_136720.2:n.115-489_115-486dup
NR_136721.2:n.115-489_115-486dup