Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21848142dup , CM000674.2:g.21848142dup	GRCh38
NC_000012.11:g.22001076dup , CM000674.1:g.22001076dup	GRCh37
NC_000012.10:g.21892343dup	NCBI36
NG_012819.1:g.93558dup , LRG_377:g.93558dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.2866+13dup	ENSP00000261201.4:n.2866+13dup
ENST00000682068.1:c.2866+13dup	ENSP00000507226.1:n.2866+13dup
ENST00000682426.1:n.443+13dup
ENST00000682879.1:c.*1964+13dup	ENSP00000508210.1:n.*1964+13dup
ENST00000683105.1:c.2866+13dup	ENSP00000506801.1:n.2866+13dup
ENST00000683676.1:c.2866+13dup	ENSP00000508167.1:n.2866+13dup
ENST00000683811.1:n.2367+13dup
ENST00000684084.1:c.2815+13dup	ENSP00000507859.1:n.2815+13dup
ENST00000261200.9:c.2866+13dup MANE Select	ENSP00000261200.4:n.2866+13dup
ENST00000261201.9:c.2866+13dup	ENSP00000261201.4:n.2866+13dup
ENST00000261200.8:c.2866+13dup	ENSP00000261200.4:n.2866+13dup
ENST00000261201.8:c.2866+13dup	ENSP00000261201.4:n.2866+13dup
ENST00000544039.5:c.1747+13dup	ENSP00000440521.1:n.1747+13dup
NM_005691.3:c.2866+13dup	NP_005682.2:n.2866+13dup
NM_020297.3:c.2866+13dup	NP_064693.2:n.2866+13dup
XM_005253284.2:c.2866+13dup	XP_005253341.1:n.2866+13dup
XM_005253286.2:c.2866+13dup	XP_005253343.1:n.2866+13dup
XM_005253287.3:c.2866+13dup	XP_005253344.1:n.2866+13dup
XM_005253288.2:c.2866+13dup	XP_005253345.1:n.2866+13dup
XM_005253289.2:c.2827+13dup	XP_005253346.1:n.2827+13dup
XM_005253290.2:c.2725+13dup	XP_005253347.1:n.2725+13dup
XM_006719025.2:c.2827+13dup	XP_006719088.1:n.2827+13dup
XM_011520545.1:c.2866+13dup	XP_011518847.1:n.2866+13dup
XM_005253284.4:c.2866+13dup	XP_005253341.1:n.2866+13dup
XM_005253286.4:c.2866+13dup	XP_005253343.1:n.2866+13dup
XM_005253287.5:c.2866+13dup	XP_005253344.1:n.2866+13dup
XM_005253288.4:c.2866+13dup	XP_005253345.1:n.2866+13dup
XM_005253289.4:c.2827+13dup	XP_005253346.1:n.2827+13dup
XM_005253290.4:c.2725+13dup	XP_005253347.1:n.2725+13dup
XM_006719025.4:c.2827+13dup	XP_006719088.1:n.2827+13dup
XM_011520545.3:c.2866+13dup	XP_011518847.1:n.2866+13dup
NM_001377273.1:c.2866+13dup	NP_001364202.1:n.2866+13dup
NM_001377274.1:c.1999+13dup	NP_001364203.1:n.1999+13dup
NM_005691.4:c.2866+13dup	NP_005682.2:n.2866+13dup
NM_020297.4:c.2866+13dup MANE Select	NP_064693.2:n.2866+13dup