Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80113862_80113863delinsAC , CM000679.2:g.80113862_80113863delinsAC	GRCh38
NC_000017.10:g.78087661_78087662delinsAC , CM000679.1:g.78087661_78087662delinsAC	GRCh37
NC_000017.9:g.75702256_75702257delinsAC	NCBI36
NG_009822.1:g.17307_17308delinsAC , LRG_673:g.17307_17308delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2189+496_2189+497delinsAC	ENSP00000460543.2:n.2189+496_2189+497delinsAC
ENST00000572080.2:c.327+496_327+497delinsAC	ENSP00000459972.2:n.327+496_327+497delinsAC
ENST00000577106.6:c.2189+496_2189+497delinsAC	ENSP00000458306.2:n.2189+496_2189+497delinsAC
ENST00000302262.8:c.2189+496_2189+497delinsAC MANE Select	ENSP00000305692.3:n.2189+496_2189+497delinsAC
ENST00000302262.7:c.2189+496_2189+497delinsAC	ENSP00000305692.3:n.2189+496_2189+497delinsAC
ENST00000390015.7:c.2189+496_2189+497delinsAC	ENSP00000374665.3:n.2189+496_2189+497delinsAC
ENST00000572080.1:c.608+496_608+497delinsAC
NM_000152.3:c.2189+496_2189+497delinsAC , LRG_673t1:c.2189+496_2189+497delinsAC	NP_000143.2:n.2189+496_2189+497delinsAC
NM_001079803.1:c.2189+496_2189+497delinsAC	NP_001073271.1:n.2189+496_2189+497delinsAC
NM_001079804.1:c.2189+496_2189+497delinsAC	NP_001073272.1:n.2189+496_2189+497delinsAC
XM_005257193.1:c.2189+496_2189+497delinsAC	XP_005257250.1:n.2189+496_2189+497delinsAC
XM_005257194.3:c.2189+496_2189+497delinsAC	XP_005257251.1:n.2189+496_2189+497delinsAC
NM_000152.4:c.2189+496_2189+497delinsAC	NP_000143.2:n.2189+496_2189+497delinsAC
NM_001079803.2:c.2189+496_2189+497delinsAC	NP_001073271.1:n.2189+496_2189+497delinsAC
NM_001079804.2:c.2189+496_2189+497delinsAC	NP_001073272.1:n.2189+496_2189+497delinsAC
XM_005257193.2:c.2189+496_2189+497delinsAC	XP_005257250.1:n.2189+496_2189+497delinsAC
XM_005257194.4:c.2189+496_2189+497delinsAC	XP_005257251.1:n.2189+496_2189+497delinsAC
NM_000152.5:c.2189+496_2189+497delinsAC MANE Select	NP_000143.2:n.2189+496_2189+497delinsAC
NM_001079803.3:c.2189+496_2189+497delinsAC	NP_001073271.1:n.2189+496_2189+497delinsAC
NM_001079804.3:c.2189+496_2189+497delinsAC	NP_001073272.1:n.2189+496_2189+497delinsAC