Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109579921dup , CM000674.2:g.109579921dup	GRCh38
NC_000012.11:g.110017726dup , CM000674.1:g.110017726dup	GRCh37
NC_000012.10:g.108502109dup	NCBI36
NG_007702.1:g.11227dup , LRG_156:g.11227dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-92+6048dup	ENSP00000439134.1:n.-92+6048dup
ENST00000546277.6:c.346dup	ENSP00000438153.2:p.Tyr116LeufsTer?
ENST00000636529.2:n.78+5021dup
ENST00000697195.1:c.*110dup	ENSP00000513181.1:n.*110dup
ENST00000697196.1:c.346dup	ENSP00000513182.1:p.Tyr116LeufsTer?
ENST00000228510.8:c.346dup MANE Select	ENSP00000228510.3:p.Tyr116LeufsTer?
ENST00000636529.1:c.64+5021dup
ENST00000636996.1:c.220-1474dup
ENST00000228510.7:c.346dup	ENSP00000228510.3:p.Tyr116LeufsTer?
ENST00000392727.7:c.346dup	ENSP00000376487.3:p.Tyr116LeufsTer19
ENST00000447878.6:c.226+3776dup	ENSP00000415555.2:n.226+3776dup
ENST00000535044.1:n.471+3776dup
ENST00000537237.5:c.*110dup	ENSP00000445382.1:n.*110dup
ENST00000539335.5:c.346dup	ENSP00000440379.1:p.Tyr116LeufsTer?
ENST00000539575.4:c.346dup	ENSP00000443551.2:p.Tyr116LeufsTer?
ENST00000539696.5:c.-92+6048dup	ENSP00000439134.1:n.-92+6048dup
ENST00000545774.5:c.226+3776dup	ENSP00000443978.1:n.226+3776dup
ENST00000546277.5:c.346dup	ENSP00000438153.1:p.Tyr116LeufsTer?
ENST00000625889.2:c.346dup	ENSP00000486846.1:p.Tyr116LeufsTer19
ENST00000629016.2:c.226+3776dup	ENSP00000486804.1:n.226+3776dup
NM_000431.3:c.346dup	NP_000422.1:p.Tyr116LeufsTer?
NM_001114185.2:c.346dup	NP_001107657.1:p.Tyr116LeufsTer?
NM_001301182.1:c.346dup	NP_001288111.1:p.Tyr116LeufsTer19
XM_011538372.1:c.346dup	XP_011536674.1:p.Tyr116LeufsTer?
XM_017019313.2:c.346dup	XP_016874802.1:p.Tyr116LeufsTer19
XM_017019314.1:c.346dup	XP_016874803.1:p.Tyr116LeufsTer?
XM_024448982.1:c.346dup	XP_024304750.1:p.Tyr116LeufsTer?
NM_000431.4:c.346dup MANE Select	NP_000422.1:p.Tyr116LeufsTer?
NM_001114185.3:c.346dup	NP_001107657.1:p.Tyr116LeufsTer?
NM_001301182.2:c.346dup	NP_001288111.1:p.Tyr116LeufsTer19