Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107507dup , CM000681.2:g.11107507dup	GRCh38
NC_000019.9:g.11218183dup , CM000681.1:g.11218183dup	GRCh37
NC_000019.8:g.11079183dup	NCBI36
NG_009060.1:g.23127dup , LRG_274:g.23127dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1191dup	ENSP00000252444.6:p.Glu398ArgfsTer20
ENST00000559340.2:c.933dup	ENSP00000453696.2:p.Glu312ArgfsTer20
ENST00000560467.2:c.933dup	ENSP00000453513.2:p.Glu312ArgfsTer6
ENST00000558518.6:c.933dup MANE Select	ENSP00000454071.1:p.Glu312ArgfsTer20
ENST00000252444.9:c.1187dup
ENST00000455727.6:c.429dup	ENSP00000397829.2:p.Glu144ArgfsTer20
ENST00000535915.5:c.810dup	ENSP00000440520.1:p.Glu271ArgfsTer20
ENST00000545707.5:c.552dup	ENSP00000437639.1:p.Glu185ArgfsTer20
ENST00000557933.5:c.933dup	ENSP00000453557.1:p.Glu312ArgfsTer20
ENST00000558013.5:c.933dup	ENSP00000453346.1:p.Glu312ArgfsTer20
ENST00000558518.5:c.933dup	ENSP00000454071.1:p.Glu312ArgfsTer20
ENST00000558528.1:n.448dup
ENST00000560467.1:c.533dup
NM_000527.4:c.933dup , LRG_274t1:c.933dup	NP_000518.1:p.Glu312ArgfsTer20
NM_001195798.1:c.933dup	NP_001182727.1:p.Glu312ArgfsTer20
NM_001195799.1:c.810dup	NP_001182728.1:p.Glu271ArgfsTer20
NM_001195800.1:c.429dup	NP_001182729.1:p.Glu144ArgfsTer20
NM_001195803.1:c.552dup	NP_001182732.1:p.Glu185ArgfsTer20
XM_011528010.1:c.933dup	XP_011526312.1:p.Glu312ArgfsTer20
XM_011528011.1:c.552dup	XP_011526313.1:p.Glu185ArgfsTer20
XR_244074.2:n.1083dup
XM_011528010.2:c.933dup	XP_011526312.1:p.Glu312ArgfsTer20
XR_001753685.2:n.1050dup
XR_001753686.2:n.1050dup
NM_000527.5:c.933dup MANE Select	NP_000518.1:p.Glu312ArgfsTer20
NM_001195798.2:c.933dup	NP_001182727.1:p.Glu312ArgfsTer20
NM_001195799.2:c.810dup	NP_001182728.1:p.Glu271ArgfsTer20
NM_001195800.2:c.429dup	NP_001182729.1:p.Glu144ArgfsTer20
NM_001195803.2:c.552dup	NP_001182732.1:p.Glu185ArgfsTer20