Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80105683_80105684insGGTTGTTCTCTGGAGAGTAAGGGGG , CM000679.2:g.80105683_80105684insGGTTGTTCTCTGGAGAGTAAGGGGG	GRCh38
NC_000017.10:g.78079482_78079483insGGTTGTTCTCTGGAGAGTAAGGGGG , CM000679.1:g.78079482_78079483insGGTTGTTCTCTGGAGAGTAAGGGGG	GRCh37
NC_000017.9:g.75694077_75694078insGGTTGTTCTCTGGAGAGTAAGGGGG	NCBI36
NG_009822.1:g.9128_9129insGGTTGTTCTCTGGAGAGTAAGGGGG , LRG_673:g.9128_9129insGGTTGTTCTCTGGAGAGTAAGGGGG

Transcript Alleles

HGVS	Amino-acid Change
NM_000152.5:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG MANE Select	NP_000143.2:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG
ENST00000302262.8:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG MANE Select	ENSP00000305692.3:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG...
NM_000152.3:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG , LRG_673t1:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	NP_000143.2:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG
NM_000152.4:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	NP_000143.2:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG
NM_001079803.1:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	NP_001073271.1:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG
NM_001079803.2:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	NP_001073271.1:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG
NM_001079803.3:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	NP_001073271.1:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG
NM_001079804.1:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	NP_001073272.1:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG
NM_001079804.2:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	NP_001073272.1:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG
NM_001079804.3:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	NP_001073272.1:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG
ENST00000302262.7:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	ENSP00000305692.3:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG...
ENST00000390015.7:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	ENSP00000374665.3:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG...
ENST00000570803.5:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	ENSP00000460543.1:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG...
ENST00000570803.6:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	ENSP00000460543.2:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG...
ENST00000572080.2:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	ENSP00000459972.2:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG...
ENST00000577106.5:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	ENSP00000458306.1:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG...
ENST00000577106.6:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	ENSP00000458306.2:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG...
XM_005257193.1:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	XP_005257250.1:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG
XM_005257193.2:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	XP_005257250.1:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG
XM_005257194.3:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	XP_005257251.1:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG
XM_005257194.4:c.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG	XP_005257251.1:n.547-66_547-65insGGTTGTTCTCTGGAGAGTAAGGGGG