Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11131190_11131196delinsGCCAGGC , CM000681.2:g.11131190_11131196delinsGCCAGGC	GRCh38
NC_000019.9:g.11241866_11241872delinsGCCAGGC , CM000681.1:g.11241866_11241872delinsGCCAGGC	GRCh37
NC_000019.8:g.11102866_11102872delinsGCCAGGC	NCBI36
NG_009060.1:g.46810_46816delinsGCCAGGC , LRG_274:g.46810_46816delinsGCCAGGC

Transcript Alleles

HGVS	Amino-acid Change
NM_000527.5:c.2548-91_2548-85delinsGCCAGGC MANE Select	NP_000518.1:n.2548-91_2548-85delinsGCCAGGC
ENST00000558518.6:c.2548-91_2548-85delinsGCCAGGC MANE Select	ENSP00000454071.1:n.2548-91_2548-85delinsGCCAGGC
NM_000527.4:c.2548-91_2548-85delinsGCCAGGC , LRG_274t1:c.2548-91_2548-85delinsGCCAGGC	NP_000518.1:n.2548-91_2548-85delinsGCCAGGC
NM_001195798.1:c.2548-97_2548-91delinsGCCAGGC	NP_001182727.1:n.2548-97_2548-91delinsGCCAGGC
NM_001195798.2:c.2548-97_2548-91delinsGCCAGGC	NP_001182727.1:n.2548-97_2548-91delinsGCCAGGC
NM_001195799.1:c.2425-91_2425-85delinsGCCAGGC	NP_001182728.1:n.2425-91_2425-85delinsGCCAGGC
NM_001195799.2:c.2425-91_2425-85delinsGCCAGGC	NP_001182728.1:n.2425-91_2425-85delinsGCCAGGC
NM_001195800.1:c.2044-91_2044-85delinsGCCAGGC	NP_001182729.1:n.2044-91_2044-85delinsGCCAGGC
NM_001195800.2:c.2044-91_2044-85delinsGCCAGGC	NP_001182729.1:n.2044-91_2044-85delinsGCCAGGC
NM_001195803.1:c.2014-91_2014-85delinsGCCAGGC	NP_001182732.1:n.2014-91_2014-85delinsGCCAGGC
NM_001195803.2:c.2014-91_2014-85delinsGCCAGGC	NP_001182732.1:n.2014-91_2014-85delinsGCCAGGC
ENST00000252444.10:c.2806-91_2806-85delinsGCCAGGC	ENSP00000252444.6:n.2806-91_2806-85delinsGCCAGGC
ENST00000252444.9:c.2802-91_2802-85delinsGCCAGGC
ENST00000455727.6:c.2044-91_2044-85delinsGCCAGGC	ENSP00000397829.2:n.2044-91_2044-85delinsGCCAGGC
ENST00000535915.5:c.2425-91_2425-85delinsGCCAGGC	ENSP00000440520.1:n.2425-91_2425-85delinsGCCAGGC
ENST00000545707.5:c.2014-91_2014-85delinsGCCAGGC	ENSP00000437639.1:n.2014-91_2014-85delinsGCCAGGC
ENST00000557933.5:c.2610-91_2610-85delinsGCCAGGC	ENSP00000453557.1:n.2610-91_2610-85delinsGCCAGGC
ENST00000558013.5:c.2548-97_2548-91delinsGCCAGGC	ENSP00000453346.1:n.2548-97_2548-91delinsGCCAGGC
ENST00000558518.5:c.2548-91_2548-85delinsGCCAGGC	ENSP00000454071.1:n.2548-91_2548-85delinsGCCAGGC
ENST00000559340.2:c.617-91_617-85delinsGCCAGGC	ENSP00000453696.2:n.617-91_617-85delinsGCCAGGC
ENST00000560467.2:c.2428-91_2428-85delinsGCCAGGC	ENSP00000453513.2:n.2428-91_2428-85delinsGCCAGGC
ENST00000560628.1:n.109-1905_109-1899delinsGCCAGGC
XM_011528010.1:c.2470-91_2470-85delinsGCCAGGC	XP_011526312.1:n.2470-91_2470-85delinsGCCAGGC
XM_011528010.2:c.2470-91_2470-85delinsGCCAGGC	XP_011526312.1:n.2470-91_2470-85delinsGCCAGGC
XM_011528011.1:c.2167-91_2167-85delinsGCCAGGC	XP_011526313.1:n.2167-91_2167-85delinsGCCAGGC
XR_001753685.2:n.2882-91_2882-85delinsGCCAGGC
XR_001753686.2:n.2525-91_2525-85delinsGCCAGGC