Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57606133_57606135dup , CM000673.2:g.57606133_57606135dup	GRCh38
NC_000011.9:g.57373606_57373608dup , CM000673.1:g.57373606_57373608dup	GRCh37
NC_000011.8:g.57130182_57130184dup	NCBI36
NG_009625.1:g.13580_13582dup , LRG_105:g.13580_13582dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.809_811dup MANE Select	ENSP00000278407.4:p.Thr270_Asn271insThr
ENST00000528996.2:c.59-5593_59-5591dup	ENSP00000431226.2:n.59-5593_59-5591dup
ENST00000531605.2:c.585_587dup	ENSP00000503752.1:n.585_587dup
ENST00000619430.2:c.686-275_686-273dup	ENSP00000478572.2:n.686-275_686-273dup
ENST00000676670.1:c.809_811dup	ENSP00000504807.1:p.Thr270_Asn271insThr
ENST00000676741.1:n.1891_1893dup
ENST00000677624.1:c.229_231dup	ENSP00000503979.1:n.229_231dup
ENST00000677625.1:c.809_811dup	ENSP00000502857.1:p.Thr270_Asn271insThr
ENST00000677856.1:n.868_870dup
ENST00000677915.1:c.685+3964_685+3966dup	ENSP00000503118.1:n.685+3964_685+3966dup
ENST00000678533.1:c.363_365dup	ENSP00000503873.1:n.363_365dup
ENST00000678592.1:c.809_811dup	ENSP00000504424.1:p.Thr270_Asn271insThr
ENST00000278407.8:c.809_811dup	ENSP00000278407.4:p.Thr270_Asn271insThr
ENST00000340687.10:c.809_811dup	ENSP00000341861.6:p.Thr270_Asn271insThr
ENST00000378323.8:c.824_826dup	ENSP00000367574.4:p.Thr275_Asn276insThr
ENST00000378324.6:c.653_655dup	ENSP00000367575.2:p.Thr218_Asn219insThr
ENST00000403558.1:c.911_913dup	ENSP00000384420.1:p.Thr304_Asn305insThr
ENST00000531133.5:c.310_312dup	ENSP00000435431.1:n.310_312dup
ENST00000531797.5:c.54+3964_54+3966dup	ENSP00000432554.1:n.54+3964_54+3966dup
ENST00000619430.1:c.349-5772_349-5770dup	ENSP00000478572.1:n.349-5772_349-5770dup
NM_000062.2:c.809_811dup , LRG_105t1:c.809_811dup	NP_000053.2:p.Thr270_Asn271insThr
NM_001032295.1:c.809_811dup	NP_001027466.1:p.Thr270_Asn271insThr
NM_000062.3:c.809_811dup MANE Select	NP_000053.2:p.Thr270_Asn271insThr
NM_001032295.2:c.809_811dup	NP_001027466.1:p.Thr270_Asn271insThr