Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221958_7221960delinsCTG , CM000679.2:g.7221958_7221960delinsCTG	GRCh38
NC_000017.10:g.7125277_7125279delinsCTG , CM000679.1:g.7125277_7125279delinsCTG	GRCh37
NC_000017.9:g.7066001_7066003delinsCTG	NCBI36
NG_007975.1:g.7125_7127delinsCTG
NG_008391.2:g.3091_3093delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.629_631delinsCTG MANE Select	ENSP00000349297.5:p.Thr210=
ENST00000322910.9:c.584_586delinsCTG	ENSP00000325395.5:n.584_586delinsCTG
ENST00000350303.9:c.563_565delinsCTG	ENSP00000344152.5:p.Thr188=
ENST00000356839.9:c.629_631delinsCTG	ENSP00000349297.5:p.Thr210=
ENST00000543245.6:c.698_700delinsCTG	ENSP00000438689.2:p.Thr233=
ENST00000577191.5:n.706_708delinsCTG
ENST00000577857.5:n.445_447delinsCTG
ENST00000579286.5:n.810_812delinsCTG
ENST00000580365.1:n.360_362delinsCTG
ENST00000581378.5:c.347_349delinsCTG
ENST00000581562.5:n.531_533delinsCTG
ENST00000582379.1:n.13_15delinsCTG
ENST00000583312.5:c.644_646delinsCTG	ENSP00000467920.1:p.Thr215=
ENST00000583760.1:n.411_413delinsCTG
NM_000018.3:c.629_631delinsCTG	NP_000009.1:p.Thr210=
NM_001033859.2:c.563_565delinsCTG	NP_001029031.1:p.Thr188=
NM_001270447.1:c.698_700delinsCTG	NP_001257376.1:p.Thr233=
NM_001270448.1:c.401_403delinsCTG	NP_001257377.1:p.Thr134=
XM_006721516.2:c.629_631delinsCTG	XP_006721579.2:p.Thr210=
XM_011523829.1:c.629_631delinsCTG	XP_011522131.1:p.Thr210=
XM_011523830.1:c.629_631delinsCTG	XP_011522132.1:p.Thr210=
XR_934021.1:n.736_738delinsCTG
XR_934022.1:n.736_738delinsCTG
XR_934023.1:n.736_738delinsCTG
XM_006721516.3:c.629_631delinsCTG	XP_006721579.2:p.Thr210=
XM_011523829.2:c.629_631delinsCTG	XP_011522131.1:p.Thr210=
XM_011523830.2:c.629_631delinsCTG	XP_011522132.1:p.Thr210=
XM_024450741.1:c.629_631delinsCTG	XP_024306509.1:p.Thr210=
XR_934021.2:n.688_690delinsCTG
XR_934022.2:n.688_690delinsCTG
XR_934023.2:n.688_690delinsCTG
NM_000018.4:c.629_631delinsCTG MANE Select	NP_000009.1:p.Thr210=
NM_001033859.3:c.563_565delinsCTG	NP_001029031.1:p.Thr188=
NM_001270447.2:c.698_700delinsCTG	NP_001257376.1:p.Thr233=
NM_001270448.2:c.401_403delinsCTG	NP_001257377.1:p.Thr134=