Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80113824_80113825insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG , CM000679.2:g.80113824_80113825insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	GRCh38
NC_000017.10:g.78087623_78087624insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG , CM000679.1:g.78087623_78087624insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	GRCh37
NC_000017.9:g.75702218_75702219insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	NCBI36
NG_009822.1:g.17269_17270insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG , LRG_673:g.17269_17270insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	ENSP00000460543.2:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGC...
ENST00000572080.2:c.327+458_327+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	ENSP00000459972.2:n.327+458_327+459insGCCGGGCGCGGTGGCTCACGC...
ENST00000577106.6:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	ENSP00000458306.2:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGC...
ENST00000302262.8:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG MANE Select	ENSP00000305692.3:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGC...
ENST00000302262.7:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	ENSP00000305692.3:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGC...
ENST00000390015.7:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	ENSP00000374665.3:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGC...
ENST00000572080.1:c.608+458_608+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG
NM_000152.3:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG , LRG_673t1:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	NP_000143.2:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAA...
NM_001079803.1:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	NP_001073271.1:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTG...
NM_001079804.1:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	NP_001073272.1:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTG...
XM_005257193.1:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	XP_005257250.1:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTG...
XM_005257194.3:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	XP_005257251.1:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTG...
NM_000152.4:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	NP_000143.2:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAA...
NM_001079803.2:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	NP_001073271.1:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTG...
NM_001079804.2:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	NP_001073272.1:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTG...
XM_005257193.2:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	XP_005257250.1:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTG...
XM_005257194.4:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	XP_005257251.1:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTG...
NM_000152.5:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG MANE Select	NP_000143.2:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAA...
NM_001079803.3:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	NP_001073271.1:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTG...
NM_001079804.3:c.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTTAGGTCAGAAGTTCGAGGCCAG	NP_001073272.1:n.2189+458_2189+459insGCCGGGCGCGGTGGCTCACGCCTG...