Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969393_31969396delinsGGTT , CM000668.2:g.31969393_31969396delinsGGTT	GRCh38
NC_000006.11:g.31937170_31937173delinsGGTT , CM000668.1:g.31937170_31937173delinsGGTT	GRCh37
NC_000006.10:g.32045149_32045152delinsGGTT	NCBI36
NG_032652.1:g.15590_15593delinsGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.2467_2470delinsGGTT	ENSP00000419905.1:n.2467_2470delinsGGTT
ENST00000483553.6:c.480_483delinsGGTT	ENSP00000420332.2:n.480_483delinsGGTT
ENST00000485349.6:n.3989_3992delinsGGTT
ENST00000491994.2:c.3513_3516delinsGGTT	ENSP00000417586.2:p.Glu1171=
ENST00000494058.6:n.3815_3818delinsGGTT
ENST00000697831.1:c.3444_3447delinsGGTT	ENSP00000513453.1:p.Glu1148=
ENST00000697832.1:n.3666_3669delinsGGTT
ENST00000697833.1:c.461_464delinsGGTT	ENSP00000513454.1:n.461_464delinsGGTT
ENST00000697834.1:n.4137_4140delinsGGTT
ENST00000697835.1:c.3031_3034delinsGGTT	ENSP00000513455.1:n.3031_3034delinsGGTT
ENST00000697836.1:n.3844_3847delinsGGTT
ENST00000697837.1:c.629_632delinsGGTT	ENSP00000513456.1:n.629_632delinsGGTT
ENST00000697838.1:c.3378_3381delinsGGTT	ENSP00000513457.1:p.Glu1126=
ENST00000697839.1:n.4231_4234delinsGGTT
ENST00000697840.1:c.3549_3552delinsGGTT	ENSP00000513458.1:p.Glu1183=
ENST00000697841.1:n.4330_4333delinsGGTT
ENST00000697842.1:n.3768_3771delinsGGTT
ENST00000375394.7:c.3513_3516delinsGGTT MANE Select	ENSP00000364543.2:p.Glu1171=
ENST00000375394.6:c.3513_3516delinsGGTT	ENSP00000364543.2:p.Glu1171=
ENST00000465703.5:n.4149_4152delinsGGTT
ENST00000470453.1:n.382+77_382+80delinsGGTT
ENST00000471818.1:n.442_445delinsGGTT
ENST00000474839.5:c.2885_2888delinsGGTT	ENSP00000420470.1:n.2885_2888delinsGGTT
ENST00000483553.5:c.949_952delinsGGTT
ENST00000485349.5:n.719_722delinsGGTT
ENST00000491994.1:c.508_511delinsGGTT
NM_006929.4:c.3513_3516delinsGGTT	NP_008860.4:p.Glu1171=
XR_001743586.2:n.3612_3615delinsGGTT
XR_926301.3:n.3529_3532delinsGGTT
NM_006929.5:c.3513_3516delinsGGTT MANE Select	NP_008860.4:p.Glu1171=