Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128100_11128110del , CM000681.2:g.11128100_11128110del	GRCh38
NC_000019.9:g.11238776_11238786del , CM000681.1:g.11238776_11238786del	GRCh37
NC_000019.8:g.11099776_11099786del	NCBI36
NG_009060.1:g.43720_43730del , LRG_274:g.43720_43730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2647+15_2647+25del	ENSP00000252444.6:n.2647+15_2647+25del
ENST00000559340.2:c.458+15_458+25del	ENSP00000453696.2:n.458+15_458+25del
ENST00000560467.2:c.2269+15_2269+25del	ENSP00000453513.2:n.2269+15_2269+25del
ENST00000558518.6:c.2389+15_2389+25del MANE Select	ENSP00000454071.1:n.2389+15_2389+25del
ENST00000252444.9:c.2643+15_2643+25del
ENST00000455727.6:c.1885+15_1885+25del	ENSP00000397829.2:n.1885+15_1885+25del
ENST00000535915.5:c.2266+15_2266+25del	ENSP00000440520.1:n.2266+15_2266+25del
ENST00000545707.5:c.1855+15_1855+25del	ENSP00000437639.1:n.1855+15_1855+25del
ENST00000557933.5:c.2389+15_2389+25del	ENSP00000453557.1:n.2389+15_2389+25del
ENST00000558013.5:c.2389+15_2389+25del	ENSP00000453346.1:n.2389+15_2389+25del
ENST00000558518.5:c.2389+15_2389+25del	ENSP00000454071.1:n.2389+15_2389+25del
ENST00000560628.1:n.108+446_108+456del
NM_000527.4:c.2389+15_2389+25del , LRG_274t1:c.2389+15_2389+25del	NP_000518.1:n.2389+15_2389+25del
NM_001195798.1:c.2389+15_2389+25del	NP_001182727.1:n.2389+15_2389+25del
NM_001195799.1:c.2266+15_2266+25del	NP_001182728.1:n.2266+15_2266+25del
NM_001195800.1:c.1885+15_1885+25del	NP_001182729.1:n.1885+15_1885+25del
NM_001195803.1:c.1855+15_1855+25del	NP_001182732.1:n.1855+15_1855+25del
XM_011528010.1:c.2312-1413_2312-1403del	XP_011526312.1:n.2312-1413_2312-1403del
XM_011528011.1:c.2008+15_2008+25del	XP_011526313.1:n.2008+15_2008+25del
XR_244074.2:n.2399+15_2399+25del
XM_011528010.2:c.2312-1413_2312-1403del	XP_011526312.1:n.2312-1413_2312-1403del
XR_001753685.2:n.2723+15_2723+25del
XR_001753686.2:n.2366+15_2366+25del
NM_000527.5:c.2389+15_2389+25del MANE Select	NP_000518.1:n.2389+15_2389+25del
NM_001195798.2:c.2389+15_2389+25del	NP_001182727.1:n.2389+15_2389+25del
NM_001195799.2:c.2266+15_2266+25del	NP_001182728.1:n.2266+15_2266+25del
NM_001195800.2:c.1885+15_1885+25del	NP_001182729.1:n.1885+15_1885+25del
NM_001195803.2:c.1855+15_1855+25del	NP_001182732.1:n.1855+15_1855+25del