Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128466dup , CM000664.2:g.32128466dup	GRCh38
NC_000002.11:g.32353535dup , CM000664.1:g.32353535dup	GRCh37
NC_000002.10:g.32207039dup	NCBI36
NG_008730.1:g.69856dup , LRG_714:g.69856dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*892dup	ENSP00000515816.1:n.*892dup
ENST00000315285.9:c.1232dup MANE Select	ENSP00000320885.3:p.Leu411PhefsTer?
ENST00000621856.2:c.1229dup	ENSP00000482496.2:p.Leu410PhefsTer?
ENST00000642281.1:c.983-8097dup
ENST00000642455.1:c.1133dup	ENSP00000493827.1:p.Leu378PhefsTer?
ENST00000642751.1:c.1006dup
ENST00000642999.1:c.974dup	ENSP00000496589.1:p.Leu325PhefsTer?
ENST00000643327.1:c.391dup
ENST00000643334.1:c.812dup
ENST00000644408.1:c.1108dup
ENST00000644954.1:c.878dup	ENSP00000494312.1:p.Leu293PhefsTer?
ENST00000645159.1:n.1969dup
ENST00000645550.1:n.445dup
ENST00000645671.1:c.682dup
ENST00000645730.1:c.579dup
ENST00000646082.1:c.878dup
ENST00000646571.1:c.1136dup	ENSP00000495015.1:p.Leu379PhefsTer?
ENST00000647007.1:n.924dup
ENST00000647133.1:c.732dup
ENST00000315285.7:c.1232dup	ENSP00000320885.3:p.Leu411PhefsTer?
ENST00000345662.5:c.1136dup	ENSP00000340817.1:p.Leu379PhefsTer?
ENST00000615843.4:c.1232dup	ENSP00000480893.1:p.Leu411PhefsTer?
ENST00000621856.1:c.974dup	ENSP00000482496.1:p.Leu325PhefsTer?
NM_014946.3:c.1232dup , LRG_714t1:c.1232dup	NP_055761.2:p.Leu411PhefsTer?
NM_199436.1:c.1136dup	NP_955468.1:p.Leu379PhefsTer?
XM_005264516.3:c.1229dup	XP_005264573.1:p.Leu410PhefsTer?
XM_011533067.1:c.1232dup	XP_011531369.1:p.Leu411PhefsTer?
NM_001363823.1:c.1229dup	NP_001350752.1:p.Leu410PhefsTer?
NM_001363875.1:c.1133dup	NP_001350804.1:p.Leu378PhefsTer?
XM_005264516.5:c.1229dup	XP_005264573.1:p.Leu410PhefsTer?
XM_011533067.2:c.1232dup	XP_011531369.1:p.Leu411PhefsTer?
XM_017004778.2:c.1136dup	XP_016860267.1:p.Leu379PhefsTer?
NM_001363823.2:c.1229dup	NP_001350752.1:p.Leu410PhefsTer?
NM_001363875.2:c.1133dup	NP_001350804.1:p.Leu378PhefsTer?
NM_001377959.1:c.1136dup	NP_001364888.1:p.Leu379PhefsTer?
NM_014946.4:c.1232dup MANE Select	NP_055761.2:p.Leu411PhefsTer?
NM_199436.2:c.1136dup	NP_955468.1:p.Leu379PhefsTer?