Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123325_11123333delinsAGTGACAAT , CM000681.2:g.11123325_11123333delinsAGTGACAAT	GRCh38
NC_000019.9:g.11234001_11234009delinsAGTGACAAT , CM000681.1:g.11234001_11234009delinsAGTGACAAT	GRCh37
NC_000019.8:g.11095001_11095009delinsAGTGACAAT	NCBI36
NG_009060.1:g.38945_38953delinsAGTGACAAT , LRG_274:g.38945_38953delinsAGTGACAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2550_2558delinsAGTGACAAT	ENSP00000252444.6:p.Ile850=
ENST00000559340.2:c.361_369delinsAGTGACAAT	ENSP00000453696.2:n.361_369delinsAGTGACAAT
ENST00000560467.2:c.2172_2180delinsAGTGACAAT	ENSP00000453513.2:p.Ile724=
ENST00000558518.6:c.2292_2300delinsAGTGACAAT MANE Select	ENSP00000454071.1:p.Ile764=
ENST00000252444.9:c.2546_2554delinsAGTGACAAT
ENST00000455727.6:c.1788_1796delinsAGTGACAAT	ENSP00000397829.2:p.Ile596=
ENST00000535915.5:c.2169_2177delinsAGTGACAAT	ENSP00000440520.1:p.Ile723=
ENST00000545707.5:c.1758_1766delinsAGTGACAAT	ENSP00000437639.1:p.Ile586=
ENST00000557933.5:c.2292_2300delinsAGTGACAAT	ENSP00000453557.1:p.Ile764=
ENST00000558013.5:c.2292_2300delinsAGTGACAAT	ENSP00000453346.1:p.Ile764=
ENST00000558518.5:c.2292_2300delinsAGTGACAAT	ENSP00000454071.1:p.Ile764=
NM_000527.4:c.2292_2300delinsAGTGACAAT , LRG_274t1:c.2292_2300delinsAGTGACAAT	NP_000518.1:p.Ile764=
NM_001195798.1:c.2292_2300delinsAGTGACAAT	NP_001182727.1:p.Ile764=
NM_001195799.1:c.2169_2177delinsAGTGACAAT	NP_001182728.1:p.Ile723=
NM_001195800.1:c.1788_1796delinsAGTGACAAT	NP_001182729.1:p.Ile596=
NM_001195803.1:c.1758_1766delinsAGTGACAAT	NP_001182732.1:p.Ile586=
XM_011528010.1:c.2292_2300delinsAGTGACAAT	XP_011526312.1:p.Ile764=
XM_011528011.1:c.1911_1919delinsAGTGACAAT	XP_011526313.1:p.Ile637=
XR_244074.2:n.2302_2310delinsAGTGACAAT
XM_011528010.2:c.2292_2300delinsAGTGACAAT	XP_011526312.1:p.Ile764=
XR_001753685.2:n.2626_2634delinsAGTGACAAT
XR_001753686.2:n.2269_2277delinsAGTGACAAT
NM_000527.5:c.2292_2300delinsAGTGACAAT MANE Select	NP_000518.1:p.Ile764=
NM_001195798.2:c.2292_2300delinsAGTGACAAT	NP_001182727.1:p.Ile764=
NM_001195799.2:c.2169_2177delinsAGTGACAAT	NP_001182728.1:p.Ile723=
NM_001195800.2:c.1788_1796delinsAGTGACAAT	NP_001182729.1:p.Ile596=
NM_001195803.2:c.1758_1766delinsAGTGACAAT	NP_001182732.1:p.Ile586=