Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80105263_80105264del , CM000679.2:g.80105263_80105264del	GRCh38
NC_000017.10:g.78079062_78079063del , CM000679.1:g.78079062_78079063del	GRCh37
NC_000017.9:g.75693657_75693658del	NCBI36
NG_009822.1:g.8708_8709del , LRG_673:g.8708_8709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.546+131_546+132del	ENSP00000460543.2:n.546+131_546+132del
ENST00000572080.2:c.546+131_546+132del	ENSP00000459972.2:n.546+131_546+132del
ENST00000577106.6:c.546+131_546+132del	ENSP00000458306.2:n.546+131_546+132del
ENST00000302262.8:c.546+131_546+132del MANE Select	ENSP00000305692.3:n.546+131_546+132del
ENST00000302262.7:c.546+131_546+132del	ENSP00000305692.3:n.546+131_546+132del
ENST00000390015.7:c.546+131_546+132del	ENSP00000374665.3:n.546+131_546+132del
ENST00000570803.5:c.546+131_546+132del	ENSP00000460543.1:n.546+131_546+132del
ENST00000577106.5:c.546+131_546+132del	ENSP00000458306.1:n.546+131_546+132del
NM_000152.3:c.546+131_546+132del , LRG_673t1:c.546+131_546+132del	NP_000143.2:n.546+131_546+132del
NM_001079803.1:c.546+131_546+132del	NP_001073271.1:n.546+131_546+132del
NM_001079804.1:c.546+131_546+132del	NP_001073272.1:n.546+131_546+132del
XM_005257193.1:c.546+131_546+132del	XP_005257250.1:n.546+131_546+132del
XM_005257194.3:c.546+131_546+132del	XP_005257251.1:n.546+131_546+132del
NM_000152.4:c.546+131_546+132del	NP_000143.2:n.546+131_546+132del
NM_001079803.2:c.546+131_546+132del	NP_001073271.1:n.546+131_546+132del
NM_001079804.2:c.546+131_546+132del	NP_001073272.1:n.546+131_546+132del
XM_005257193.2:c.546+131_546+132del	XP_005257250.1:n.546+131_546+132del
XM_005257194.4:c.546+131_546+132del	XP_005257251.1:n.546+131_546+132del
NM_000152.5:c.546+131_546+132del MANE Select	NP_000143.2:n.546+131_546+132del
NM_001079803.3:c.546+131_546+132del	NP_001073271.1:n.546+131_546+132del
NM_001079804.3:c.546+131_546+132del	NP_001073272.1:n.546+131_546+132del

Linked Data

Genomic Alleles

Transcript Alleles