Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120411_11120424delinsTGCCAGTATCTGTG , CM000681.2:g.11120411_11120424delinsTGCCAGTATCTGTG	GRCh38
NC_000019.9:g.11231087_11231100delinsTGCCAGTATCTGTG , CM000681.1:g.11231087_11231100delinsTGCCAGTATCTGTG	GRCh37
NC_000019.8:g.11092087_11092100delinsTGCCAGTATCTGTG	NCBI36
NG_009060.1:g.36031_36044delinsTGCCAGTATCTGTG , LRG_274:g.36031_36044delinsTGCCAGTATCTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2287_2300delinsTGCCAGTATCTGTG	ENSP00000252444.6:p.Cys763=
ENST00000559340.2:c.98_111delinsTGCCAGTATCTGTG	ENSP00000453696.2:n.98_111delinsTGCCAGTATCTGTG
ENST00000560467.2:c.1909_1922delinsTGCCAGTATCTGTG	ENSP00000453513.2:p.Cys637=
ENST00000558518.6:c.2029_2042delinsTGCCAGTATCTGTG MANE Select	ENSP00000454071.1:p.Cys677=
ENST00000252444.9:c.2283_2296delinsTGCCAGTATCTGTG
ENST00000455727.6:c.1525_1538delinsTGCCAGTATCTGTG	ENSP00000397829.2:p.Cys509=
ENST00000535915.5:c.1906_1919delinsTGCCAGTATCTGTG	ENSP00000440520.1:p.Cys636=
ENST00000545707.5:c.1606+178_1606+191delinsTGCCAGTATCTGTG	ENSP00000437639.1:n.1606+178_1606+191delinsTGCCAGTATCTGTG
ENST00000557933.5:c.2029_2042delinsTGCCAGTATCTGTG	ENSP00000453557.1:p.Cys677=
ENST00000558013.5:c.2029_2042delinsTGCCAGTATCTGTG	ENSP00000453346.1:p.Cys677=
ENST00000558518.5:c.2029_2042delinsTGCCAGTATCTGTG	ENSP00000454071.1:p.Cys677=
NM_000527.4:c.2029_2042delinsTGCCAGTATCTGTG , LRG_274t1:c.2029_2042delinsTGCCAGTATCTGTG	NP_000518.1:p.Cys677=
NM_001195798.1:c.2029_2042delinsTGCCAGTATCTGTG	NP_001182727.1:p.Cys677=
NM_001195799.1:c.1906_1919delinsTGCCAGTATCTGTG	NP_001182728.1:p.Cys636=
NM_001195800.1:c.1525_1538delinsTGCCAGTATCTGTG	NP_001182729.1:p.Cys509=
NM_001195803.1:c.1606+178_1606+191delinsTGCCAGTATCTGTG	NP_001182732.1:n.1606+178_1606+191delinsTGCCAGTATCTGTG
XM_011528010.1:c.2029_2042delinsTGCCAGTATCTGTG	XP_011526312.1:p.Cys677=
XM_011528011.1:c.1648_1661delinsTGCCAGTATCTGTG	XP_011526313.1:p.Cys550=
XR_244074.2:n.2039_2052delinsTGCCAGTATCTGTG
XM_011528010.2:c.2029_2042delinsTGCCAGTATCTGTG	XP_011526312.1:p.Cys677=
XR_001753685.2:n.2146_2159delinsTGCCAGTATCTGTG
XR_001753686.2:n.2006_2019delinsTGCCAGTATCTGTG
NM_000527.5:c.2029_2042delinsTGCCAGTATCTGTG MANE Select	NP_000518.1:p.Cys677=
NM_001195798.2:c.2029_2042delinsTGCCAGTATCTGTG	NP_001182727.1:p.Cys677=
NM_001195799.2:c.1906_1919delinsTGCCAGTATCTGTG	NP_001182728.1:p.Cys636=
NM_001195800.2:c.1525_1538delinsTGCCAGTATCTGTG	NP_001182729.1:p.Cys509=
NM_001195803.2:c.1606+178_1606+191delinsTGCCAGTATCTGTG	NP_001182732.1:n.1606+178_1606+191delinsTGCCAGTATCTGTG