Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11131208_11131209del , CM000681.2:g.11131208_11131209del	GRCh38
NC_000019.9:g.11241884_11241885del , CM000681.1:g.11241884_11241885del	GRCh37
NC_000019.8:g.11102884_11102885del	NCBI36
NG_009060.1:g.46828_46829del , LRG_274:g.46828_46829del

Transcript Alleles

HGVS	Amino-acid Change
NM_000527.5:c.2548-73_2548-72del MANE Select	NP_000518.1:n.2548-73_2548-72del
ENST00000558518.6:c.2548-73_2548-72del MANE Select	ENSP00000454071.1:n.2548-73_2548-72del
NM_000527.4:c.2548-73_2548-72del , LRG_274t1:c.2548-73_2548-72del	NP_000518.1:n.2548-73_2548-72del
NM_001195798.1:c.2548-79_2548-78del	NP_001182727.1:n.2548-79_2548-78del
NM_001195798.2:c.2548-79_2548-78del	NP_001182727.1:n.2548-79_2548-78del
NM_001195799.1:c.2425-73_2425-72del	NP_001182728.1:n.2425-73_2425-72del
NM_001195799.2:c.2425-73_2425-72del	NP_001182728.1:n.2425-73_2425-72del
NM_001195800.1:c.2044-73_2044-72del	NP_001182729.1:n.2044-73_2044-72del
NM_001195800.2:c.2044-73_2044-72del	NP_001182729.1:n.2044-73_2044-72del
NM_001195803.1:c.2014-73_2014-72del	NP_001182732.1:n.2014-73_2014-72del
NM_001195803.2:c.2014-73_2014-72del	NP_001182732.1:n.2014-73_2014-72del
ENST00000252444.10:c.2806-73_2806-72del	ENSP00000252444.6:n.2806-73_2806-72del
ENST00000252444.9:c.2802-73_2802-72del
ENST00000455727.6:c.2044-73_2044-72del	ENSP00000397829.2:n.2044-73_2044-72del
ENST00000535915.5:c.2425-73_2425-72del	ENSP00000440520.1:n.2425-73_2425-72del
ENST00000545707.5:c.2014-73_2014-72del	ENSP00000437639.1:n.2014-73_2014-72del
ENST00000557933.5:c.2610-73_2610-72del	ENSP00000453557.1:n.2610-73_2610-72del
ENST00000558013.5:c.2548-79_2548-78del	ENSP00000453346.1:n.2548-79_2548-78del
ENST00000558518.5:c.2548-73_2548-72del	ENSP00000454071.1:n.2548-73_2548-72del
ENST00000559340.2:c.617-73_617-72del	ENSP00000453696.2:n.617-73_617-72del
ENST00000560467.2:c.2428-73_2428-72del	ENSP00000453513.2:n.2428-73_2428-72del
ENST00000560628.1:n.109-1887_109-1886del
XM_011528010.1:c.2470-73_2470-72del	XP_011526312.1:n.2470-73_2470-72del
XM_011528010.2:c.2470-73_2470-72del	XP_011526312.1:n.2470-73_2470-72del
XM_011528011.1:c.2167-73_2167-72del	XP_011526313.1:n.2167-73_2167-72del
XR_001753685.2:n.2882-73_2882-72del
XR_001753686.2:n.2525-73_2525-72del