Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108269_80108280delinsCCAGAGCTGCTT , CM000679.2:g.80108269_80108280delinsCCAGAGCTGCTT	GRCh38
NC_000017.10:g.78082068_78082079delinsCCAGAGCTGCTT , CM000679.1:g.78082068_78082079delinsCCAGAGCTGCTT	GRCh37
NC_000017.9:g.75696663_75696674delinsCCAGAGCTGCTT	NCBI36
NG_009822.1:g.11714_11725delinsCCAGAGCTGCTT , LRG_673:g.11714_11725delinsCCAGAGCTGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.956-21_956-10delinsCCAGAGCTGCTT	ENSP00000460543.2:n.956-21_956-10delinsCCAGAGCTGCTT
ENST00000572080.2:c.956-21_956-10delinsCCAGAGCTGCTT	ENSP00000459972.2:n.956-21_956-10delinsCCAGAGCTGCTT
ENST00000577106.6:c.956-21_956-10delinsCCAGAGCTGCTT	ENSP00000458306.2:n.956-21_956-10delinsCCAGAGCTGCTT
ENST00000302262.8:c.956-21_956-10delinsCCAGAGCTGCTT MANE Select	ENSP00000305692.3:n.956-21_956-10delinsCCAGAGCTGCTT
ENST00000302262.7:c.956-21_956-10delinsCCAGAGCTGCTT	ENSP00000305692.3:n.956-21_956-10delinsCCAGAGCTGCTT
ENST00000390015.7:c.956-21_956-10delinsCCAGAGCTGCTT	ENSP00000374665.3:n.956-21_956-10delinsCCAGAGCTGCTT
NM_000152.3:c.956-21_956-10delinsCCAGAGCTGCTT , LRG_673t1:c.956-21_956-10delinsCCAGAGCTGCTT	NP_000143.2:n.956-21_956-10delinsCCAGAGCTGCTT
NM_001079803.1:c.956-21_956-10delinsCCAGAGCTGCTT	NP_001073271.1:n.956-21_956-10delinsCCAGAGCTGCTT
NM_001079804.1:c.956-21_956-10delinsCCAGAGCTGCTT	NP_001073272.1:n.956-21_956-10delinsCCAGAGCTGCTT
XM_005257193.1:c.956-21_956-10delinsCCAGAGCTGCTT	XP_005257250.1:n.956-21_956-10delinsCCAGAGCTGCTT
XM_005257194.3:c.956-21_956-10delinsCCAGAGCTGCTT	XP_005257251.1:n.956-21_956-10delinsCCAGAGCTGCTT
NM_000152.4:c.956-21_956-10delinsCCAGAGCTGCTT	NP_000143.2:n.956-21_956-10delinsCCAGAGCTGCTT
NM_001079803.2:c.956-21_956-10delinsCCAGAGCTGCTT	NP_001073271.1:n.956-21_956-10delinsCCAGAGCTGCTT
NM_001079804.2:c.956-21_956-10delinsCCAGAGCTGCTT	NP_001073272.1:n.956-21_956-10delinsCCAGAGCTGCTT
XM_005257193.2:c.956-21_956-10delinsCCAGAGCTGCTT	XP_005257250.1:n.956-21_956-10delinsCCAGAGCTGCTT
XM_005257194.4:c.956-21_956-10delinsCCAGAGCTGCTT	XP_005257251.1:n.956-21_956-10delinsCCAGAGCTGCTT
NM_000152.5:c.956-21_956-10delinsCCAGAGCTGCTT MANE Select	NP_000143.2:n.956-21_956-10delinsCCAGAGCTGCTT
NM_001079803.3:c.956-21_956-10delinsCCAGAGCTGCTT	NP_001073271.1:n.956-21_956-10delinsCCAGAGCTGCTT
NM_001079804.3:c.956-21_956-10delinsCCAGAGCTGCTT	NP_001073272.1:n.956-21_956-10delinsCCAGAGCTGCTT