Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815216_127815261delinsTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGG , CM000671.2:g.127815216_127815261delinsTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGG	GRCh38
NC_000009.11:g.130577495_130577540delinsTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGG , CM000671.1:g.130577495_130577540delinsTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGG	GRCh37
NC_000009.10:g.129617316_129617361delinsTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGG	NCBI36
NG_009551.1:g.44508_44553delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA , LRG_589:g.44508_44553delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA
NG_023245.1:g.17342_17387delinsTTAGTTAGGCAAGTTCAGGTGTGGAGGCCGCAGGGATAGATCCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	ENSP00000479015.1:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCAC...
ENST00000373203.9:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA MANE Select	ENSP00000362299.4:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCAC...
ENST00000344849.4:c.656_701delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	ENSP00000341917.3:n.656_701delinsCCTGGATCTATCCCTGCGGCCTCCAC...
ENST00000373203.8:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	ENSP00000362299.4:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCAC...
ENST00000480266.5:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	ENSP00000479015.1:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCAC...
NM_000118.3:c.656_701delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA , LRG_589t1:c.656_701delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	NP_000109.1:n.656_701delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGA...
NM_001114753.2:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA , LRG_589t2:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	NP_001108225.1:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACC...
NM_001278138.1:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	NP_001265067.1:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACC...
NM_001114753.3:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA MANE Select	NP_001108225.1:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACC...
NM_001278138.2:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	NP_001265067.1:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACC...

HGVS	Amino-acid Change
ENST00000480266.6:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	ENSP00000479015.1:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCAC...
ENST00000373203.9:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA MANE Select	ENSP00000362299.4:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCAC...
ENST00000344849.4:c.656_701delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	ENSP00000341917.3:n.656_701delinsCCTGGATCTATCCCTGCGGCCTCCAC...
ENST00000373203.8:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	ENSP00000362299.4:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCAC...
ENST00000480266.5:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	ENSP00000479015.1:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCAC...
NM_000118.3:c.656_701delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA , LRG_589t1:c.656_701delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	NP_000109.1:n.656_701delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGA...
NM_001114753.2:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA , LRG_589t2:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	NP_001108225.1:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACC...
NM_001278138.1:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	NP_001265067.1:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACC...
NM_001114753.3:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA MANE Select	NP_001108225.1:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACC...
NM_001278138.2:c.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACCTGAACTTGCCTAACTAA	NP_001265067.1:n.421_466delinsCCTGGATCTATCCCTGCGGCCTCCACACC...