Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32128478dup , CM000664.2:g.32128478dup	GRCh38
NC_000002.11:g.32353547dup , CM000664.1:g.32353547dup	GRCh37
NC_000002.10:g.32207051dup	NCBI36
NG_008730.1:g.69868dup , LRG_714:g.69868dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*904dup	ENSP00000515816.1:n.*904dup
ENST00000315285.9:c.1244dup MANE Select	ENSP00000320885.3:p.Tyr415Ter
ENST00000621856.2:c.1241dup	ENSP00000482496.2:p.Tyr414Ter
ENST00000642281.1:c.983-8085dup
ENST00000642455.1:c.1145dup	ENSP00000493827.1:p.Tyr382Ter
ENST00000642751.1:c.1018dup
ENST00000642999.1:c.986dup	ENSP00000496589.1:p.Tyr329Ter
ENST00000643327.1:c.403dup
ENST00000643334.1:c.824dup
ENST00000644408.1:c.1120dup
ENST00000644954.1:c.890dup	ENSP00000494312.1:p.Tyr297Ter
ENST00000645159.1:n.1981dup
ENST00000645550.1:n.457dup
ENST00000645671.1:c.694dup
ENST00000645730.1:c.591dup
ENST00000646082.1:c.890dup
ENST00000646571.1:c.1148dup	ENSP00000495015.1:p.Tyr383Ter
ENST00000647007.1:n.936dup
ENST00000647133.1:c.744dup
ENST00000315285.7:c.1244dup	ENSP00000320885.3:p.Tyr415Ter
ENST00000345662.5:c.1148dup	ENSP00000340817.1:p.Tyr383Ter
ENST00000615843.4:c.1244dup	ENSP00000480893.1:p.Tyr415Ter
ENST00000621856.1:c.986dup	ENSP00000482496.1:p.Tyr329Ter
NM_014946.3:c.1244dup , LRG_714t1:c.1244dup	NP_055761.2:p.Tyr415Ter
NM_199436.1:c.1148dup	NP_955468.1:p.Tyr383Ter
XM_005264516.3:c.1241dup	XP_005264573.1:p.Tyr414Ter
XM_011533067.1:c.1244dup	XP_011531369.1:p.Tyr415Ter
NM_001363823.1:c.1241dup	NP_001350752.1:p.Tyr414Ter
NM_001363875.1:c.1145dup	NP_001350804.1:p.Tyr382Ter
XM_005264516.5:c.1241dup	XP_005264573.1:p.Tyr414Ter
XM_011533067.2:c.1244dup	XP_011531369.1:p.Tyr415Ter
XM_017004778.2:c.1148dup	XP_016860267.1:p.Tyr383Ter
NM_001363823.2:c.1241dup	NP_001350752.1:p.Tyr414Ter
NM_001363875.2:c.1145dup	NP_001350804.1:p.Tyr382Ter
NM_001377959.1:c.1148dup	NP_001364888.1:p.Tyr383Ter
NM_014946.4:c.1244dup MANE Select	NP_055761.2:p.Tyr415Ter
NM_199436.2:c.1148dup	NP_955468.1:p.Tyr383Ter