Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868708_81868709delinsAG , CM000679.2:g.81868708_81868709delinsAG	GRCh38
NC_000017.10:g.79826584_79826585delinsAG , CM000679.1:g.79826584_79826585delinsAG	GRCh37
NC_000017.9:g.77419873_77419874delinsAG	NCBI36
NG_034210.1:g.7698_7699delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.167_168delinsCT MANE Select	ENSP00000269321.7:n.167_168delinsCT
ENST00000269321.11:c.167_168delinsCT	ENSP00000269321.7:n.167_168delinsCT
ENST00000400721.8:c.167_168delinsCT	ENSP00000383556.4:n.167_168delinsCT
ENST00000541078.6:c.167_168delinsCT	ENSP00000441348.2:n.167_168delinsCT
ENST00000579121.5:c.503-125_503-124delinsCT	ENSP00000462960.1:n.503-125_503-124delinsCT
ENST00000580685.5:c.167_168delinsCT	ENSP00000464205.1:n.167_168delinsCT
ENST00000581876.5:c.167_168delinsCT	ENSP00000461956.1:n.167_168delinsCT
ENST00000583868.5:c.670_671delinsCT	ENSP00000462209.1:p.Leu224=
ENST00000584461.5:c.503-125_503-124delinsCT	ENSP00000463939.1:n.503-125_503-124delinsCT
NM_001185077.2:c.167_168delinsCT	NP_001172006.1:n.167_168delinsCT
NM_001185078.2:c.167_168delinsCT	NP_001172007.1:n.167_168delinsCT
NM_001301240.1:c.503-125_503-124delinsCT	NP_001288169.1:n.503-125_503-124delinsCT
NM_001301241.1:c.503-125_503-124delinsCT	NP_001288170.1:n.503-125_503-124delinsCT
NM_001301242.1:c.670_671delinsCT	NP_001288171.1:p.Leu224=
NM_001301243.1:c.167_168delinsCT	NP_001288172.1:n.167_168delinsCT
NM_004309.5:c.167_168delinsCT	NP_004300.1:n.167_168delinsCT
NR_125441.1:n.841_842delinsCT
XM_011523574.1:c.167_168delinsCT	XP_011521876.1:n.167_168delinsCT
NM_004309.6:c.167_168delinsCT MANE Select	NP_004300.1:n.167_168delinsCT
NM_001185077.3:c.167_168delinsCT	NP_001172006.1:n.167_168delinsCT
NM_001185078.3:c.167_168delinsCT	NP_001172007.1:n.167_168delinsCT
NM_001301240.2:c.503-125_503-124delinsCT	NP_001288169.1:n.503-125_503-124delinsCT
NM_001301241.2:c.503-125_503-124delinsCT	NP_001288170.1:n.503-125_503-124delinsCT
NM_001301242.2:c.670_671delinsCT	NP_001288171.1:p.Leu224=
NM_001301243.2:c.167_168delinsCT	NP_001288172.1:n.167_168delinsCT
NR_125441.2:n.772_773delinsCT

HGVS	Amino-acid Change
ENST00000269321.12:c.167_168delinsCT MANE Select	ENSP00000269321.7:n.167_168delinsCT
ENST00000269321.11:c.167_168delinsCT	ENSP00000269321.7:n.167_168delinsCT
ENST00000400721.8:c.167_168delinsCT	ENSP00000383556.4:n.167_168delinsCT
ENST00000541078.6:c.167_168delinsCT	ENSP00000441348.2:n.167_168delinsCT
ENST00000579121.5:c.503-125_503-124delinsCT	ENSP00000462960.1:n.503-125_503-124delinsCT
ENST00000580685.5:c.167_168delinsCT	ENSP00000464205.1:n.167_168delinsCT
ENST00000581876.5:c.167_168delinsCT	ENSP00000461956.1:n.167_168delinsCT
ENST00000583868.5:c.670_671delinsCT	ENSP00000462209.1:p.Leu224=
ENST00000584461.5:c.503-125_503-124delinsCT	ENSP00000463939.1:n.503-125_503-124delinsCT
NM_001185077.2:c.167_168delinsCT	NP_001172006.1:n.167_168delinsCT
NM_001185078.2:c.167_168delinsCT	NP_001172007.1:n.167_168delinsCT
NM_001301240.1:c.503-125_503-124delinsCT	NP_001288169.1:n.503-125_503-124delinsCT
NM_001301241.1:c.503-125_503-124delinsCT	NP_001288170.1:n.503-125_503-124delinsCT
NM_001301242.1:c.670_671delinsCT	NP_001288171.1:p.Leu224=
NM_001301243.1:c.167_168delinsCT	NP_001288172.1:n.167_168delinsCT
NM_004309.5:c.167_168delinsCT	NP_004300.1:n.167_168delinsCT
NR_125441.1:n.841_842delinsCT
XM_011523574.1:c.167_168delinsCT	XP_011521876.1:n.167_168delinsCT
NM_004309.6:c.167_168delinsCT MANE Select	NP_004300.1:n.167_168delinsCT
NM_001185077.3:c.167_168delinsCT	NP_001172006.1:n.167_168delinsCT
NM_001185078.3:c.167_168delinsCT	NP_001172007.1:n.167_168delinsCT
NM_001301240.2:c.503-125_503-124delinsCT	NP_001288169.1:n.503-125_503-124delinsCT
NM_001301241.2:c.503-125_503-124delinsCT	NP_001288170.1:n.503-125_503-124delinsCT
NM_001301242.2:c.670_671delinsCT	NP_001288171.1:p.Leu224=
NM_001301243.2:c.167_168delinsCT	NP_001288172.1:n.167_168delinsCT
NR_125441.2:n.772_773delinsCT