Allele Registry

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Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108290_80108296del , CM000679.2:g.80108290_80108296del	GRCh38
NC_000017.10:g.78082089_78082095del , CM000679.1:g.78082089_78082095del	GRCh37
NC_000017.9:g.75696684_75696690del	NCBI36
NG_009822.1:g.11735_11741del , LRG_673:g.11735_11741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.956_962del	ENSP00000460543.2:p.Asp319AlafsTer?
ENST00000572080.2:c.956_962del	ENSP00000459972.2:p.Asp319AlafsTer?
ENST00000577106.6:c.956_962del	ENSP00000458306.2:p.Asp319AlafsTer?
ENST00000302262.8:c.956_962del MANE Select	ENSP00000305692.3:p.Asp319AlafsTer?
ENST00000302262.7:c.956_962del	ENSP00000305692.3:p.Asp319AlafsTer?
ENST00000390015.7:c.956_962del	ENSP00000374665.3:p.Asp319AlafsTer?
NM_000152.3:c.956_962del , LRG_673t1:c.956_962del	NP_000143.2:p.Asp319AlafsTer?
NM_001079803.1:c.956_962del	NP_001073271.1:p.Asp319AlafsTer?
NM_001079804.1:c.956_962del	NP_001073272.1:p.Asp319AlafsTer?
XM_005257193.1:c.956_962del	XP_005257250.1:p.Asp319AlafsTer?
XM_005257194.3:c.956_962del	XP_005257251.1:p.Asp319AlafsTer?
NM_000152.4:c.956_962del	NP_000143.2:p.Asp319AlafsTer?
NM_001079803.2:c.956_962del	NP_001073271.1:p.Asp319AlafsTer?
NM_001079804.2:c.956_962del	NP_001073272.1:p.Asp319AlafsTer?
XM_005257193.2:c.956_962del	XP_005257250.1:p.Asp319AlafsTer?
XM_005257194.4:c.956_962del	XP_005257251.1:p.Asp319AlafsTer?
NM_000152.5:c.956_962del MANE Select	NP_000143.2:p.Asp319AlafsTer?
NM_001079803.3:c.956_962del	NP_001073271.1:p.Asp319AlafsTer?
NM_001079804.3:c.956_962del	NP_001073272.1:p.Asp319AlafsTer?