Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80113832_80113833insCAGCTTGATTTTTG , CM000679.2:g.80113832_80113833insCAGCTTGATTTTTG	GRCh38
NC_000017.10:g.78087631_78087632insCAGCTTGATTTTTG , CM000679.1:g.78087631_78087632insCAGCTTGATTTTTG	GRCh37
NC_000017.9:g.75702226_75702227insCAGCTTGATTTTTG	NCBI36
NG_009822.1:g.17277_17278insCAGCTTGATTTTTG , LRG_673:g.17277_17278insCAGCTTGATTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2189+466_2189+467insCAGCTTGATTTTTG	ENSP00000460543.2:n.2189+466_2189+467insCAGCTTGATTTTTG
ENST00000572080.2:c.327+466_327+467insCAGCTTGATTTTTG	ENSP00000459972.2:n.327+466_327+467insCAGCTTGATTTTTG
ENST00000577106.6:c.2189+466_2189+467insCAGCTTGATTTTTG	ENSP00000458306.2:n.2189+466_2189+467insCAGCTTGATTTTTG
ENST00000302262.8:c.2189+466_2189+467insCAGCTTGATTTTTG MANE Select	ENSP00000305692.3:n.2189+466_2189+467insCAGCTTGATTTTTG
ENST00000302262.7:c.2189+466_2189+467insCAGCTTGATTTTTG	ENSP00000305692.3:n.2189+466_2189+467insCAGCTTGATTTTTG
ENST00000390015.7:c.2189+466_2189+467insCAGCTTGATTTTTG	ENSP00000374665.3:n.2189+466_2189+467insCAGCTTGATTTTTG
ENST00000572080.1:c.608+466_608+467insCAGCTTGATTTTTG
NM_000152.3:c.2189+466_2189+467insCAGCTTGATTTTTG , LRG_673t1:c.2189+466_2189+467insCAGCTTGATTTTTG	NP_000143.2:n.2189+466_2189+467insCAGCTTGATTTTTG
NM_001079803.1:c.2189+466_2189+467insCAGCTTGATTTTTG	NP_001073271.1:n.2189+466_2189+467insCAGCTTGATTTTTG
NM_001079804.1:c.2189+466_2189+467insCAGCTTGATTTTTG	NP_001073272.1:n.2189+466_2189+467insCAGCTTGATTTTTG
XM_005257193.1:c.2189+466_2189+467insCAGCTTGATTTTTG	XP_005257250.1:n.2189+466_2189+467insCAGCTTGATTTTTG
XM_005257194.3:c.2189+466_2189+467insCAGCTTGATTTTTG	XP_005257251.1:n.2189+466_2189+467insCAGCTTGATTTTTG
NM_000152.4:c.2189+466_2189+467insCAGCTTGATTTTTG	NP_000143.2:n.2189+466_2189+467insCAGCTTGATTTTTG
NM_001079803.2:c.2189+466_2189+467insCAGCTTGATTTTTG	NP_001073271.1:n.2189+466_2189+467insCAGCTTGATTTTTG
NM_001079804.2:c.2189+466_2189+467insCAGCTTGATTTTTG	NP_001073272.1:n.2189+466_2189+467insCAGCTTGATTTTTG
XM_005257193.2:c.2189+466_2189+467insCAGCTTGATTTTTG	XP_005257250.1:n.2189+466_2189+467insCAGCTTGATTTTTG
XM_005257194.4:c.2189+466_2189+467insCAGCTTGATTTTTG	XP_005257251.1:n.2189+466_2189+467insCAGCTTGATTTTTG
NM_000152.5:c.2189+466_2189+467insCAGCTTGATTTTTG MANE Select	NP_000143.2:n.2189+466_2189+467insCAGCTTGATTTTTG
NM_001079803.3:c.2189+466_2189+467insCAGCTTGATTTTTG	NP_001073271.1:n.2189+466_2189+467insCAGCTTGATTTTTG
NM_001079804.3:c.2189+466_2189+467insCAGCTTGATTTTTG	NP_001073272.1:n.2189+466_2189+467insCAGCTTGATTTTTG