Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412442_47412447delinsCAGAAA , CM000664.2:g.47412442_47412447delinsCAGAAA	GRCh38
NC_000002.11:g.47639581_47639586delinsCAGAAA , CM000664.1:g.47639581_47639586delinsCAGAAA	GRCh37
NC_000002.10:g.47493085_47493090delinsCAGAAA	NCBI36
NG_007110.2:g.14319_14324delinsCAGAAA , LRG_218:g.14319_14324delinsCAGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.674_679delinsCAGAAA	ENSP00000495641.2:p.Thr225=
ENST00000233146.7:c.674_679delinsCAGAAA MANE Select	ENSP00000233146.2:p.Thr225=
ENST00000543555.6:c.476_481delinsCAGAAA	ENSP00000442697.1:p.Thr159=
ENST00000644092.1:c.674_679delinsCAGAAA	ENSP00000496351.1:p.Thr225=
ENST00000645339.1:c.674_679delinsCAGAAA	ENSP00000496441.1:p.Thr225=
ENST00000645506.1:c.674_679delinsCAGAAA	ENSP00000495455.1:p.Thr225=
ENST00000646415.1:c.674_679delinsCAGAAA	ENSP00000495543.1:p.Thr225=
ENST00000233146.6:c.674_679delinsCAGAAA	ENSP00000233146.2:p.Thr225=
ENST00000406134.5:c.674_679delinsCAGAAA	ENSP00000384199.1:p.Thr225=
ENST00000543555.5:c.476_481delinsCAGAAA	ENSP00000442697.1:p.Thr159=
ENST00000610696.4:c.674_679delinsCAGAAA	ENSP00000483159.1:p.Thr225=
ENST00000613514.4:c.674_679delinsCAGAAA	ENSP00000484137.1:p.Thr225=
ENST00000617333.3:c.674_679delinsCAGAAA	ENSP00000482468.1:p.Thr225=
ENST00000617938.4:c.674_679delinsCAGAAA	ENSP00000481158.1:p.Thr225=
ENST00000621359.2:c.674_679delinsCAGAAA	ENSP00000481416.1:p.Thr225=
NM_000251.2:c.674_679delinsCAGAAA , LRG_218t1:c.674_679delinsCAGAAA	NP_000242.1:p.Thr225=
NM_001258281.1:c.476_481delinsCAGAAA	NP_001245210.1:p.Thr159=
XM_005264332.2:c.674_679delinsCAGAAA	XP_005264389.2:p.Thr225=
XM_011532867.1:c.674_679delinsCAGAAA	XP_011531169.1:p.Thr225=
XR_939685.1:n.746_751delinsCAGAAA
XM_005264332.4:c.674_679delinsCAGAAA	XP_005264389.2:p.Thr225=
XM_011532867.2:c.674_679delinsCAGAAA	XP_011531169.1:p.Thr225=
XR_001738747.2:n.736_741delinsCAGAAA
XR_939685.2:n.736_741delinsCAGAAA
NM_000251.3:c.674_679delinsCAGAAA MANE Select	NP_000242.1:p.Thr225=