Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80105149_80105150delinsCG , CM000679.2:g.80105149_80105150delinsCG	GRCh38
NC_000017.10:g.78078948_78078949delinsCG , CM000679.1:g.78078948_78078949delinsCG	GRCh37
NC_000017.9:g.75693543_75693544delinsCG	NCBI36
NG_009822.1:g.8594_8595delinsCG , LRG_673:g.8594_8595delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.546+17_546+18delinsCG	ENSP00000460543.2:n.546+17_546+18delinsCG
ENST00000572080.2:c.546+17_546+18delinsCG	ENSP00000459972.2:n.546+17_546+18delinsCG
ENST00000577106.6:c.546+17_546+18delinsCG	ENSP00000458306.2:n.546+17_546+18delinsCG
ENST00000302262.8:c.546+17_546+18delinsCG MANE Select	ENSP00000305692.3:n.546+17_546+18delinsCG
ENST00000302262.7:c.546+17_546+18delinsCG	ENSP00000305692.3:n.546+17_546+18delinsCG
ENST00000390015.7:c.546+17_546+18delinsCG	ENSP00000374665.3:n.546+17_546+18delinsCG
ENST00000570803.5:c.546+17_546+18delinsCG	ENSP00000460543.1:n.546+17_546+18delinsCG
ENST00000577106.5:c.546+17_546+18delinsCG	ENSP00000458306.1:n.546+17_546+18delinsCG
NM_000152.3:c.546+17_546+18delinsCG , LRG_673t1:c.546+17_546+18delinsCG	NP_000143.2:n.546+17_546+18delinsCG
NM_001079803.1:c.546+17_546+18delinsCG	NP_001073271.1:n.546+17_546+18delinsCG
NM_001079804.1:c.546+17_546+18delinsCG	NP_001073272.1:n.546+17_546+18delinsCG
XM_005257193.1:c.546+17_546+18delinsCG	XP_005257250.1:n.546+17_546+18delinsCG
XM_005257194.3:c.546+17_546+18delinsCG	XP_005257251.1:n.546+17_546+18delinsCG
NM_000152.4:c.546+17_546+18delinsCG	NP_000143.2:n.546+17_546+18delinsCG
NM_001079803.2:c.546+17_546+18delinsCG	NP_001073271.1:n.546+17_546+18delinsCG
NM_001079804.2:c.546+17_546+18delinsCG	NP_001073272.1:n.546+17_546+18delinsCG
XM_005257193.2:c.546+17_546+18delinsCG	XP_005257250.1:n.546+17_546+18delinsCG
XM_005257194.4:c.546+17_546+18delinsCG	XP_005257251.1:n.546+17_546+18delinsCG
NM_000152.5:c.546+17_546+18delinsCG MANE Select	NP_000143.2:n.546+17_546+18delinsCG
NM_001079803.3:c.546+17_546+18delinsCG	NP_001073271.1:n.546+17_546+18delinsCG
NM_001079804.3:c.546+17_546+18delinsCG	NP_001073272.1:n.546+17_546+18delinsCG