Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11131183_11131204del , CM000681.2:g.11131183_11131204del	GRCh38
NC_000019.9:g.11241859_11241880del , CM000681.1:g.11241859_11241880del	GRCh37
NC_000019.8:g.11102859_11102880del	NCBI36
NG_009060.1:g.46803_46824del , LRG_274:g.46803_46824del

Transcript Alleles

HGVS	Amino-acid Change
NM_000527.5:c.2548-98_2548-77del MANE Select	NP_000518.1:n.2548-98_2548-77del
ENST00000558518.6:c.2548-98_2548-77del MANE Select	ENSP00000454071.1:n.2548-98_2548-77del
NM_000527.4:c.2548-98_2548-77del , LRG_274t1:c.2548-98_2548-77del	NP_000518.1:n.2548-98_2548-77del
NM_001195798.1:c.2548-104_2548-83del	NP_001182727.1:n.2548-104_2548-83del
NM_001195798.2:c.2548-104_2548-83del	NP_001182727.1:n.2548-104_2548-83del
NM_001195799.1:c.2425-98_2425-77del	NP_001182728.1:n.2425-98_2425-77del
NM_001195799.2:c.2425-98_2425-77del	NP_001182728.1:n.2425-98_2425-77del
NM_001195800.1:c.2044-98_2044-77del	NP_001182729.1:n.2044-98_2044-77del
NM_001195800.2:c.2044-98_2044-77del	NP_001182729.1:n.2044-98_2044-77del
NM_001195803.1:c.2014-98_2014-77del	NP_001182732.1:n.2014-98_2014-77del
NM_001195803.2:c.2014-98_2014-77del	NP_001182732.1:n.2014-98_2014-77del
ENST00000252444.10:c.2806-98_2806-77del	ENSP00000252444.6:n.2806-98_2806-77del
ENST00000252444.9:c.2802-98_2802-77del
ENST00000455727.6:c.2044-98_2044-77del	ENSP00000397829.2:n.2044-98_2044-77del
ENST00000535915.5:c.2425-98_2425-77del	ENSP00000440520.1:n.2425-98_2425-77del
ENST00000545707.5:c.2014-98_2014-77del	ENSP00000437639.1:n.2014-98_2014-77del
ENST00000557933.5:c.2610-98_2610-77del	ENSP00000453557.1:n.2610-98_2610-77del
ENST00000558013.5:c.2548-104_2548-83del	ENSP00000453346.1:n.2548-104_2548-83del
ENST00000558518.5:c.2548-98_2548-77del	ENSP00000454071.1:n.2548-98_2548-77del
ENST00000559340.2:c.617-98_617-77del	ENSP00000453696.2:n.617-98_617-77del
ENST00000560467.2:c.2428-98_2428-77del	ENSP00000453513.2:n.2428-98_2428-77del
ENST00000560628.1:n.109-1912_109-1891del
XM_011528010.1:c.2470-98_2470-77del	XP_011526312.1:n.2470-98_2470-77del
XM_011528010.2:c.2470-98_2470-77del	XP_011526312.1:n.2470-98_2470-77del
XM_011528011.1:c.2167-98_2167-77del	XP_011526313.1:n.2167-98_2167-77del
XR_001753685.2:n.2882-98_2882-77del
XR_001753686.2:n.2525-98_2525-77del