Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476406_47476408delinsCTG , CM000664.2:g.47476406_47476408delinsCTG	GRCh38
NC_000002.11:g.47703545_47703547delinsCTG , CM000664.1:g.47703545_47703547delinsCTG	GRCh37
NC_000002.10:g.47557049_47557051delinsCTG	NCBI36
NG_007110.2:g.78283_78285delinsCTG , LRG_218:g.78283_78285delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2045_2047delinsCTG	ENSP00000495641.2:p.Thr682=
ENST00000233146.7:c.2045_2047delinsCTG MANE Select	ENSP00000233146.2:p.Thr682=
ENST00000543555.6:c.1847_1849delinsCTG	ENSP00000442697.1:p.Thr616=
ENST00000644092.1:c.345_347delinsCTG	ENSP00000496351.1:n.345_347delinsCTG
ENST00000645339.1:c.2045_2047delinsCTG	ENSP00000496441.1:p.Thr682=
ENST00000645506.1:c.2045_2047delinsCTG	ENSP00000495455.1:p.Thr682=
ENST00000646415.1:c.2045_2047delinsCTG	ENSP00000495543.1:p.Thr682=
ENST00000233146.6:c.2045_2047delinsCTG	ENSP00000233146.2:p.Thr682=
ENST00000406134.5:c.2045_2047delinsCTG	ENSP00000384199.1:p.Thr682=
ENST00000543555.5:c.1847_1849delinsCTG	ENSP00000442697.1:p.Thr616=
ENST00000610696.4:c.441_443delinsCTG	ENSP00000483159.1:n.441_443delinsCTG
ENST00000613514.4:c.585_587delinsCTG	ENSP00000484137.1:n.585_587delinsCTG
ENST00000617333.3:c.811_813delinsCTG	ENSP00000482468.1:n.811_813delinsCTG
ENST00000617938.4:c.1017_1019delinsCTG	ENSP00000481158.1:n.1017_1019delinsCTG
ENST00000621359.2:c.2045_2047delinsCTG	ENSP00000481416.1:p.Thr682=
NM_000251.2:c.2045_2047delinsCTG , LRG_218t1:c.2045_2047delinsCTG	NP_000242.1:p.Thr682=
NM_001258281.1:c.1847_1849delinsCTG	NP_001245210.1:p.Thr616=
XM_005264332.2:c.2045_2047delinsCTG	XP_005264389.2:p.Thr682=
XM_011532867.1:c.2045_2047delinsCTG	XP_011531169.1:p.Thr682=
XR_939685.1:n.2117_2119delinsCTG
XM_005264332.4:c.2045_2047delinsCTG	XP_005264389.2:p.Thr682=
XM_011532867.2:c.2045_2047delinsCTG	XP_011531169.1:p.Thr682=
XR_001738747.2:n.2107_2109delinsCTG
XR_939685.2:n.2107_2109delinsCTG
NM_000251.3:c.2045_2047delinsCTG MANE Select	NP_000242.1:p.Thr682=