Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129539_11129541delinsAGAAG , CM000681.2:g.11129539_11129541delinsAGAAG	GRCh38
NC_000019.9:g.11240215_11240217delinsAGAAG , CM000681.1:g.11240215_11240217delinsAGAAG	GRCh37
NC_000019.8:g.11101215_11101217delinsAGAAG	NCBI36
NG_009060.1:g.45159_45161delinsAGAAG , LRG_274:g.45159_45161delinsAGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2674_2676delinsAGAAG	ENSP00000252444.6:p.Val892ArgfsTer?
ENST00000559340.2:c.485_487delinsAGAAG	ENSP00000453696.2:n.485_487delinsAGAAG
ENST00000560467.2:c.2296_2298delinsAGAAG	ENSP00000453513.2:p.Val766ArgfsTer?
ENST00000558518.6:c.2416_2418delinsAGAAG MANE Select	ENSP00000454071.1:p.Val806ArgfsTer?
ENST00000252444.9:c.2670_2672delinsAGAAG
ENST00000455727.6:c.1912_1914delinsAGAAG	ENSP00000397829.2:p.Val638ArgfsTer?
ENST00000535915.5:c.2293_2295delinsAGAAG	ENSP00000440520.1:p.Val765ArgfsTer?
ENST00000545707.5:c.1882_1884delinsAGAAG	ENSP00000437639.1:p.Val628ArgfsTer?
ENST00000557933.5:c.2478_2480delinsAGAAG	ENSP00000453557.1:p.Ser827GlufsTer11
ENST00000558013.5:c.2416_2418delinsAGAAG	ENSP00000453346.1:p.Val806ArgfsTer?
ENST00000558518.5:c.2416_2418delinsAGAAG	ENSP00000454071.1:p.Val806ArgfsTer?
ENST00000560628.1:n.108+1885_108+1887delinsAGAAG
NM_000527.4:c.2416_2418delinsAGAAG , LRG_274t1:c.2416_2418delinsAGAAG	NP_000518.1:p.Val806ArgfsTer?
NM_001195798.1:c.2416_2418delinsAGAAG	NP_001182727.1:p.Val806ArgfsTer?
NM_001195799.1:c.2293_2295delinsAGAAG	NP_001182728.1:p.Val765ArgfsTer?
NM_001195800.1:c.1912_1914delinsAGAAG	NP_001182729.1:p.Val638ArgfsTer?
NM_001195803.1:c.1882_1884delinsAGAAG	NP_001182732.1:p.Val628ArgfsTer?
XM_011528010.1:c.2338_2340delinsAGAAG	XP_011526312.1:p.Val780ArgfsTer?
XM_011528011.1:c.2035_2037delinsAGAAG	XP_011526313.1:p.Val679ArgfsTer?
XR_244074.2:n.2426_2428delinsAGAAG
XM_011528010.2:c.2338_2340delinsAGAAG	XP_011526312.1:p.Val780ArgfsTer?
XR_001753685.2:n.2750_2752delinsAGAAG
XR_001753686.2:n.2393_2395delinsAGAAG
NM_000527.5:c.2416_2418delinsAGAAG MANE Select	NP_000518.1:p.Val806ArgfsTer?
NM_001195798.2:c.2416_2418delinsAGAAG	NP_001182727.1:p.Val806ArgfsTer?
NM_001195799.2:c.2293_2295delinsAGAAG	NP_001182728.1:p.Val765ArgfsTer?
NM_001195800.2:c.1912_1914delinsAGAAG	NP_001182729.1:p.Val638ArgfsTer?
NM_001195803.2:c.1882_1884delinsAGAAG	NP_001182732.1:p.Val628ArgfsTer?