Allele Registry

HGVS	Genome Assembly
NC_000009.12:g.127815137_127815171delinsAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTG , CM000671.2:g.127815137_127815171delinsAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTG	GRCh38
NC_000009.11:g.130577416_130577450delinsAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTG , CM000671.1:g.130577416_130577450delinsAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTG	GRCh37
NC_000009.10:g.129617237_129617271delinsAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTG	NCBI36
NG_009551.1:g.44598_44632delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT , LRG_589:g.44598_44632delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT
NG_023245.1:g.17263_17297delinsAGGCTCCCAACGCCCACTGTTCTTGCCACCCTCTG

HGVS	Amino-acid Change
ENST00000480266.6:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	ENSP00000479015.1:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGT...
ENST00000373203.9:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT MANE Select	ENSP00000362299.4:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGT...
ENST00000344849.4:c.746_780delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	ENSP00000341917.3:n.746_780delinsCAGAGGGTGGCAAGAACAGTGGGCGT...
ENST00000373203.8:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	ENSP00000362299.4:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGT...
ENST00000480266.5:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	ENSP00000479015.1:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGT...
NM_000118.3:c.746_780delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT , LRG_589t1:c.746_780delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	NP_000109.1:n.746_780delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAG...
NM_001114753.2:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT , LRG_589t2:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	NP_001108225.1:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGG...
NM_001278138.1:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	NP_001265067.1:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGG...
NM_001114753.3:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT MANE Select	NP_001108225.1:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGG...
NM_001278138.2:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	NP_001265067.1:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGG...

HGVS	Amino-acid Change
ENST00000480266.6:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	ENSP00000479015.1:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGT...
ENST00000373203.9:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT MANE Select	ENSP00000362299.4:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGT...
ENST00000344849.4:c.746_780delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	ENSP00000341917.3:n.746_780delinsCAGAGGGTGGCAAGAACAGTGGGCGT...
ENST00000373203.8:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	ENSP00000362299.4:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGT...
ENST00000480266.5:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	ENSP00000479015.1:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGT...
NM_000118.3:c.746_780delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT , LRG_589t1:c.746_780delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	NP_000109.1:n.746_780delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAG...
NM_001114753.2:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT , LRG_589t2:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	NP_001108225.1:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGG...
NM_001278138.1:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	NP_001265067.1:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGG...
NM_001114753.3:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT MANE Select	NP_001108225.1:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGG...
NM_001278138.2:c.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGGGAGCCT	NP_001265067.1:n.511_545delinsCAGAGGGTGGCAAGAACAGTGGGCGTTGG...