Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.3855966dup , CM000671.2:g.3855966dup	GRCh38
NC_000009.11:g.3855966dup , CM000671.1:g.3855966dup	GRCh37
NC_000009.10:g.3845966dup	NCBI36
NG_011782.1:g.449070dup
NG_011782.2:g.449070dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000464391.2:n.1074dup
ENST00000491889.6:c.*1836+43dup	ENSP00000419914.1:n.*1836+43dup
ENST00000645252.2:n.915+43dup
ENST00000682749.1:c.2008+43dup	ENSP00000507306.1:n.2008+43dup
ENST00000682846.1:c.132-26474dup	ENSP00000507527.1:n.132-26474dup
ENST00000682864.1:n.972+43dup
ENST00000381971.8:c.2473+43dup MANE Select	ENSP00000371398.3:n.2473+43dup
ENST00000645252.1:n.915+43dup
ENST00000324333.14:c.2008+43dup	ENSP00000325494.10:n.2008+43dup
ENST00000381971.7:c.2473+43dup	ENSP00000371398.3:n.2473+43dup
ENST00000461870.5:n.829+43dup
ENST00000467497.6:n.1056dup
NM_001042413.1:c.2473+43dup	NP_001035878.1:n.2473+43dup
NM_152629.3:c.2008+43dup	NP_689842.3:n.2008+43dup
XM_005251386.3:c.2008+43dup	XP_005251443.1:n.2008+43dup
XM_005251387.3:c.1807+43dup	XP_005251444.1:n.1807+43dup
XM_005251388.3:c.1807+43dup	XP_005251445.1:n.1807+43dup
XM_011517763.1:c.2473+43dup	XP_011516065.1:n.2473+43dup
XM_011517764.1:c.2473+43dup	XP_011516066.1:n.2473+43dup
XM_011517765.1:c.2473+43dup	XP_011516067.1:n.2473+43dup
XM_011517766.1:c.2008+43dup	XP_011516068.1:n.2008+43dup
XM_011517767.1:c.1807+43dup	XP_011516069.1:n.1807+43dup
XM_005251386.4:c.2008+43dup	XP_005251443.1:n.2008+43dup
XM_005251387.4:c.1807+43dup	XP_005251444.1:n.1807+43dup
XM_005251388.4:c.1807+43dup	XP_005251445.1:n.1807+43dup
XM_011517763.2:c.2473+43dup	XP_011516065.1:n.2473+43dup
XM_011517764.2:c.2473+43dup	XP_011516066.1:n.2473+43dup
XM_011517765.2:c.2473+43dup	XP_011516067.1:n.2473+43dup
XM_011517766.2:c.2008+43dup	XP_011516068.1:n.2008+43dup
XM_011517767.3:c.1807+43dup	XP_011516069.1:n.1807+43dup
XM_017014361.1:c.2008+43dup	XP_016869850.1:n.2008+43dup
NM_001042413.2:c.2473+43dup MANE Select	NP_001035878.1:n.2473+43dup
NM_152629.4:c.2008+43dup	NP_689842.3:n.2008+43dup