Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11131196_11131201del , CM000681.2:g.11131196_11131201del	GRCh38
NC_000019.9:g.11241872_11241877del , CM000681.1:g.11241872_11241877del	GRCh37
NC_000019.8:g.11102872_11102877del	NCBI36
NG_009060.1:g.46816_46821del , LRG_274:g.46816_46821del

Transcript Alleles

HGVS	Amino-acid Change
NM_000527.5:c.2548-85_2548-80del MANE Select	NP_000518.1:n.2548-85_2548-80del
ENST00000558518.6:c.2548-85_2548-80del MANE Select	ENSP00000454071.1:n.2548-85_2548-80del
NM_000527.4:c.2548-85_2548-80del , LRG_274t1:c.2548-85_2548-80del	NP_000518.1:n.2548-85_2548-80del
NM_001195798.1:c.2548-91_2548-86del	NP_001182727.1:n.2548-91_2548-86del
NM_001195798.2:c.2548-91_2548-86del	NP_001182727.1:n.2548-91_2548-86del
NM_001195799.1:c.2425-85_2425-80del	NP_001182728.1:n.2425-85_2425-80del
NM_001195799.2:c.2425-85_2425-80del	NP_001182728.1:n.2425-85_2425-80del
NM_001195800.1:c.2044-85_2044-80del	NP_001182729.1:n.2044-85_2044-80del
NM_001195800.2:c.2044-85_2044-80del	NP_001182729.1:n.2044-85_2044-80del
NM_001195803.1:c.2014-85_2014-80del	NP_001182732.1:n.2014-85_2014-80del
NM_001195803.2:c.2014-85_2014-80del	NP_001182732.1:n.2014-85_2014-80del
ENST00000252444.10:c.2806-85_2806-80del	ENSP00000252444.6:n.2806-85_2806-80del
ENST00000252444.9:c.2802-85_2802-80del
ENST00000455727.6:c.2044-85_2044-80del	ENSP00000397829.2:n.2044-85_2044-80del
ENST00000535915.5:c.2425-85_2425-80del	ENSP00000440520.1:n.2425-85_2425-80del
ENST00000545707.5:c.2014-85_2014-80del	ENSP00000437639.1:n.2014-85_2014-80del
ENST00000557933.5:c.2610-85_2610-80del	ENSP00000453557.1:n.2610-85_2610-80del
ENST00000558013.5:c.2548-91_2548-86del	ENSP00000453346.1:n.2548-91_2548-86del
ENST00000558518.5:c.2548-85_2548-80del	ENSP00000454071.1:n.2548-85_2548-80del
ENST00000559340.2:c.617-85_617-80del	ENSP00000453696.2:n.617-85_617-80del
ENST00000560467.2:c.2428-85_2428-80del	ENSP00000453513.2:n.2428-85_2428-80del
ENST00000560628.1:n.109-1899_109-1894del
XM_011528010.1:c.2470-85_2470-80del	XP_011526312.1:n.2470-85_2470-80del
XM_011528010.2:c.2470-85_2470-80del	XP_011526312.1:n.2470-85_2470-80del
XM_011528011.1:c.2167-85_2167-80del	XP_011526313.1:n.2167-85_2167-80del
XR_001753685.2:n.2882-85_2882-80del
XR_001753686.2:n.2525-85_2525-80del