Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105589_11105590insAAATCTGAC , CM000681.2:g.11105589_11105590insAAATCTGAC	GRCh38
NC_000019.9:g.11216265_11216266insAAATCTGAC , CM000681.1:g.11216265_11216266insAAATCTGAC	GRCh37
NC_000019.8:g.11077265_11077266insAAATCTGAC	NCBI36
NG_009060.1:g.21209_21210insAAATCTGAC , LRG_274:g.21209_21210insAAATCTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.941_942insAAATCTGAC	ENSP00000252444.6:p.Glu314_Glu315insAsnLeuThr
ENST00000559340.2:c.683_684insAAATCTGAC	ENSP00000453696.2:p.Glu228_Glu229insAsnLeuThr
ENST00000560467.2:c.683_684insAAATCTGAC	ENSP00000453513.2:p.Glu228_Glu229insAsnLeuThr
ENST00000558518.6:c.683_684insAAATCTGAC MANE Select	ENSP00000454071.1:p.Glu228_Glu229insAsnLeuThr
ENST00000252444.9:c.937_938insAAATCTGAC
ENST00000455727.6:c.314-1803_314-1802insAAATCTGAC	ENSP00000397829.2:n.314-1803_314-1802insAAATCTGAC
ENST00000535915.5:c.560_561insAAATCTGAC	ENSP00000440520.1:p.Glu187_Glu188insAsnLeuThr
ENST00000545707.5:c.314-976_314-975insAAATCTGAC	ENSP00000437639.1:n.314-976_314-975insAAATCTGAC
ENST00000557933.5:c.683_684insAAATCTGAC	ENSP00000453557.1:p.Glu228_Glu229insAsnLeuThr
ENST00000558013.5:c.683_684insAAATCTGAC	ENSP00000453346.1:p.Glu228_Glu229insAsnLeuThr
ENST00000558518.5:c.683_684insAAATCTGAC	ENSP00000454071.1:p.Glu228_Glu229insAsnLeuThr
ENST00000560467.1:c.283_284insAAATCTGAC
NM_000527.4:c.683_684insAAATCTGAC , LRG_274t1:c.683_684insAAATCTGAC	NP_000518.1:p.Glu228_Glu229insAsnLeuThr
NM_001195798.1:c.683_684insAAATCTGAC	NP_001182727.1:p.Glu228_Glu229insAsnLeuThr
NM_001195799.1:c.560_561insAAATCTGAC	NP_001182728.1:p.Glu187_Glu188insAsnLeuThr
NM_001195800.1:c.314-1803_314-1802insAAATCTGAC	NP_001182729.1:n.314-1803_314-1802insAAATCTGAC
NM_001195803.1:c.314-976_314-975insAAATCTGAC	NP_001182732.1:n.314-976_314-975insAAATCTGAC
XM_011528010.1:c.683_684insAAATCTGAC	XP_011526312.1:p.Glu228_Glu229insAsnLeuThr
XM_011528011.1:c.314-976_314-975insAAATCTGAC	XP_011526313.1:n.314-976_314-975insAAATCTGAC
XR_244074.2:n.833_834insAAATCTGAC
XM_011528010.2:c.683_684insAAATCTGAC	XP_011526312.1:p.Glu228_Glu229insAsnLeuThr
XR_001753685.2:n.800_801insAAATCTGAC
XR_001753686.2:n.800_801insAAATCTGAC
NM_000527.5:c.683_684insAAATCTGAC MANE Select	NP_000518.1:p.Glu228_Glu229insAsnLeuThr
NM_001195798.2:c.683_684insAAATCTGAC	NP_001182727.1:p.Glu228_Glu229insAsnLeuThr
NM_001195799.2:c.560_561insAAATCTGAC	NP_001182728.1:p.Glu187_Glu188insAsnLeuThr
NM_001195800.2:c.314-1803_314-1802insAAATCTGAC	NP_001182729.1:n.314-1803_314-1802insAAATCTGAC
NM_001195803.2:c.314-976_314-975insAAATCTGAC	NP_001182732.1:n.314-976_314-975insAAATCTGAC