Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117173590_117173592delinsAAG , CM000670.2:g.117173590_117173592delinsAAG	GRCh38
NC_000008.10:g.118185829_118185831delinsAAG , CM000670.1:g.118185829_118185831delinsAAG	GRCh37
NC_000008.9:g.118255010_118255012delinsAAG	NCBI36
NG_016991.1:g.228318_228320delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456015.7:c.909_911delinsAAG MANE Select	ENSP00000415011.2:n.909_911delinsAAG
ENST00000427715.2:c.909_911delinsAAG	ENSP00000407505.2:n.909_911delinsAAG
ENST00000456015.6:c.2019_2021delinsAAG	ENSP00000415011.2:n.2019_2021delinsAAG
ENST00000519688.5:c.909_911delinsAAG	ENSP00000431069.1:n.909_911delinsAAG
NM_001172811.1:c.909_911delinsAAG	NP_001166282.1:n.909_911delinsAAG
NM_001172813.1:c.909_911delinsAAG	NP_001166284.1:n.909_911delinsAAG
NM_001172814.1:c.909_911delinsAAG	NP_001166285.1:n.909_911delinsAAG
NM_001172815.1:c.909_911delinsAAG	NP_001166286.1:n.909_911delinsAAG
NM_173851.2:c.909_911delinsAAG	NP_776250.2:n.909_911delinsAAG
XM_011516881.1:c.909_911delinsAAG	XP_011515183.1:n.909_911delinsAAG
XM_011516882.1:c.909_911delinsAAG	XP_011515184.1:n.909_911delinsAAG
XR_928566.1:n.920-104_920-102delinsCTT
XR_928567.1:n.513-104_513-102delinsCTT
XR_928568.1:n.718-104_718-102delinsCTT
XR_928569.1:n.761-104_761-102delinsCTT
XR_928570.1:n.761-104_761-102delinsCTT
NM_001172815.2:c.909_911delinsAAG	NP_001166286.1:n.909_911delinsAAG
XM_024447083.1:c.909_911delinsAAG	XP_024302851.1:n.909_911delinsAAG
XR_001746038.1:n.705-104_705-102delinsCTT
XR_928566.2:n.863-104_863-102delinsCTT
XR_928567.2:n.476-104_476-102delinsCTT
XR_928568.3:n.716-104_716-102delinsCTT
XR_928569.2:n.714-104_714-102delinsCTT
XR_928570.2:n.714-104_714-102delinsCTT
NM_001172811.2:c.909_911delinsAAG	NP_001166282.1:n.909_911delinsAAG
NM_001172813.2:c.909_911delinsAAG	NP_001166284.1:n.909_911delinsAAG
NM_001172814.2:c.909_911delinsAAG	NP_001166285.1:n.909_911delinsAAG
NM_173851.3:c.909_911delinsAAG MANE Select	NP_776250.2:n.909_911delinsAAG
NM_001172815.3:c.909_911delinsAAG	NP_001166286.1:n.909_911delinsAAG

HGVS	Amino-acid Change
ENST00000456015.7:c.909_911delinsAAG MANE Select	ENSP00000415011.2:n.909_911delinsAAG
ENST00000427715.2:c.909_911delinsAAG	ENSP00000407505.2:n.909_911delinsAAG
ENST00000456015.6:c.2019_2021delinsAAG	ENSP00000415011.2:n.2019_2021delinsAAG
ENST00000519688.5:c.909_911delinsAAG	ENSP00000431069.1:n.909_911delinsAAG
NM_001172811.1:c.909_911delinsAAG	NP_001166282.1:n.909_911delinsAAG
NM_001172813.1:c.909_911delinsAAG	NP_001166284.1:n.909_911delinsAAG
NM_001172814.1:c.909_911delinsAAG	NP_001166285.1:n.909_911delinsAAG
NM_001172815.1:c.909_911delinsAAG	NP_001166286.1:n.909_911delinsAAG
NM_173851.2:c.909_911delinsAAG	NP_776250.2:n.909_911delinsAAG
XM_011516881.1:c.909_911delinsAAG	XP_011515183.1:n.909_911delinsAAG
XM_011516882.1:c.909_911delinsAAG	XP_011515184.1:n.909_911delinsAAG
XR_928566.1:n.920-104_920-102delinsCTT
XR_928567.1:n.513-104_513-102delinsCTT
XR_928568.1:n.718-104_718-102delinsCTT
XR_928569.1:n.761-104_761-102delinsCTT
XR_928570.1:n.761-104_761-102delinsCTT
NM_001172815.2:c.909_911delinsAAG	NP_001166286.1:n.909_911delinsAAG
XM_024447083.1:c.909_911delinsAAG	XP_024302851.1:n.909_911delinsAAG
XR_001746038.1:n.705-104_705-102delinsCTT
XR_928566.2:n.863-104_863-102delinsCTT
XR_928567.2:n.476-104_476-102delinsCTT
XR_928568.3:n.716-104_716-102delinsCTT
XR_928569.2:n.714-104_714-102delinsCTT
XR_928570.2:n.714-104_714-102delinsCTT
NM_001172811.2:c.909_911delinsAAG	NP_001166282.1:n.909_911delinsAAG
NM_001172813.2:c.909_911delinsAAG	NP_001166284.1:n.909_911delinsAAG
NM_001172814.2:c.909_911delinsAAG	NP_001166285.1:n.909_911delinsAAG
NM_173851.3:c.909_911delinsAAG MANE Select	NP_776250.2:n.909_911delinsAAG
NM_001172815.3:c.909_911delinsAAG	NP_001166286.1:n.909_911delinsAAG