Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57614362_57614363del , CM000673.2:g.57614362_57614363del	GRCh38
NC_000011.9:g.57381835_57381836del , CM000673.1:g.57381835_57381836del	GRCh37
NC_000011.8:g.57138411_57138412del	NCBI36
NG_009625.1:g.21809_21810del , LRG_105:g.21809_21810del

Transcript Alleles

HGVS	Amino-acid change
ENST00000278407.9:c.1284_1285del MANE Select	ENSP00000278407.4:p.Cys428TrpfsTer?
ENST00000528996.2:c.181_182del	ENSP00000431226.2:n.181_182del
ENST00000531605.2:c.1060_1061del	ENSP00000503752.1:n.1060_1061del
ENST00000619430.2:c.1080_1081del	ENSP00000478572.2:p.Cys360TrpfsTer?
ENST00000676670.1:c.1284_1285del	ENSP00000504807.1:p.Cys428TrpfsTer?
ENST00000676741.1:n.2366_2367del
ENST00000677624.1:c.704_705del	ENSP00000503979.1:n.704_705del
ENST00000677625.1:c.1230_1231del	ENSP00000502857.1:p.Cys410TrpfsTer?
ENST00000677856.1:n.1537_1538del
ENST00000677915.1:c.181_182del	ENSP00000503118.1:n.181_182del
ENST00000678533.1:c.838_839del	ENSP00000503873.1:n.838_839del
ENST00000678592.1:c.224_225del	ENSP00000504424.1:n.224_225del
ENST00000278407.8:c.1284_1285del	ENSP00000278407.4:p.Cys428TrpfsTer?
ENST00000340687.10:c.1173_1174del	ENSP00000341861.6:p.Cys391TrpfsTer?
ENST00000378323.8:c.1299_1300del	ENSP00000367574.4:p.Cys433TrpfsTer?
ENST00000378324.6:c.1128_1129del	ENSP00000367575.2:p.Cys376TrpfsTer?
ENST00000403558.1:c.1413_1414del	ENSP00000384420.1:p.Cys471TrpfsTer?
ENST00000528996.1:c.485_486del	ENSP00000431226.1:n.485_486del
ENST00000530113.1:n.741_742del
ENST00000531133.5:c.785_786del	ENSP00000435431.1:n.785_786del
ENST00000531797.5:c.309_310del	ENSP00000432554.1:n.309_310del
ENST00000619430.1:c.415_416del	ENSP00000478572.1:n.415_416del
NM_000062.2:c.1284_1285del , LRG_105t1:c.1284_1285del	NP_000053.2:p.Cys428TrpfsTer?
NM_001032295.1:c.1284_1285del	NP_001027466.1:p.Cys428TrpfsTer?
NM_000062.3:c.1284_1285del MANE Select	NP_000053.2:p.Cys428TrpfsTer?
NM_001032295.2:c.1284_1285del	NP_001027466.1:p.Cys428TrpfsTer?