Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29639206_29639214del , CM000684.2:g.29639206_29639214del	GRCh38
NC_000022.10:g.30035195_30035203del , CM000684.1:g.30035195_30035203del	GRCh37
NC_000022.9:g.28365195_28365203del	NCBI36
NG_009057.1:g.40651_40659del , LRG_511:g.40651_40659del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361166.10:c.357_363+2del
ENST00000673312.2:c.357_363+2del
ENST00000338641.10:c.357_363+2del
ENST00000672461.1:c.357_363+2del
ENST00000672805.1:c.239_245+2del
ENST00000672896.1:c.357_363+2del
ENST00000673312.1:c.270_276+2del
ENST00000334961.11:c.115-2996_115-2988del	ENSP00000335652.7:n.115-2996_115-2988del
ENST00000338641.8:c.357_363+2del
ENST00000353887.8:c.115-2996_115-2988del	ENSP00000340626.4:n.115-2996_115-2988del
ENST00000361166.8:c.357_363+2del
ENST00000361452.8:c.240+2330_240+2338del	ENSP00000354897.4:n.240+2330_240+2338del
ENST00000361676.8:c.231_237+2del
ENST00000397789.3:c.357_363+2del
ENST00000403435.5:c.357_363+2del
ENST00000403999.7:c.357_363+2del
ENST00000413209.6:c.357_363+2del
ENST00000432151.5:c.115-2996_115-2988del	ENSP00000395885.1:n.115-2996_115-2988del
NM_000268.3:c.357_363+2del , LRG_511t1:c.357_363+2del
NM_016418.5:c.357_363+2del , LRG_511t2:c.357_363+2del
NM_181825.2:c.357_363+2del
NM_181828.2:c.231_237+2del
NM_181829.2:c.240+2330_240+2338del	NP_861967.1:n.240+2330_240+2338del
NM_181830.2:c.115-2996_115-2988del	NP_861968.1:n.115-2996_115-2988del
NM_181831.2:c.115-2996_115-2988del	NP_861969.1:n.115-2996_115-2988del
NM_181832.2:c.357_363+2del
NM_181833.2:c.357_363+2del
NR_156186.1:n.916_922+2del
XM_017028809.2:c.243_249+2del
XM_017028810.1:c.243_249+2del
NM_000268.4:c.357_363+2del
NM_181825.3:c.357_363+2del
NM_181828.3:c.231_237+2del
NM_181829.3:c.240+2330_240+2338del	NP_861967.1:n.240+2330_240+2338del
NM_181830.3:c.115-2996_115-2988del	NP_861968.1:n.115-2996_115-2988del
NM_181831.3:c.115-2996_115-2988del	NP_861969.1:n.115-2996_115-2988del
NM_181832.3:c.357_363+2del
NR_156186.2:n.839_845+2del
NM_181833.3:c.357_363+2del