Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105582_11105595delinsTCTGACGAGGAAAA , CM000681.2:g.11105582_11105595delinsTCTGACGAGGAAAA	GRCh38
NC_000019.9:g.11216258_11216271delinsTCTGACGAGGAAAA , CM000681.1:g.11216258_11216271delinsTCTGACGAGGAAAA	GRCh37
NC_000019.8:g.11077258_11077271delinsTCTGACGAGGAAAA	NCBI36
NG_009060.1:g.21202_21215delinsTCTGACGAGGAAAA , LRG_274:g.21202_21215delinsTCTGACGAGGAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.934_947delinsTCTGACGAGGAAAA	ENSP00000252444.6:p.Ser312=
ENST00000559340.2:c.676_689delinsTCTGACGAGGAAAA	ENSP00000453696.2:p.Ser226=
ENST00000560467.2:c.676_689delinsTCTGACGAGGAAAA	ENSP00000453513.2:p.Ser226=
ENST00000558518.6:c.676_689delinsTCTGACGAGGAAAA MANE Select	ENSP00000454071.1:p.Ser226=
ENST00000252444.9:c.930_943delinsTCTGACGAGGAAAA
ENST00000455727.6:c.314-1810_314-1797delinsTCTGACGAGGAAAA	ENSP00000397829.2:n.314-1810_314-1797delinsTCTGACGAGGAAAA
ENST00000535915.5:c.553_566delinsTCTGACGAGGAAAA	ENSP00000440520.1:p.Ser185=
ENST00000545707.5:c.314-983_314-970delinsTCTGACGAGGAAAA	ENSP00000437639.1:n.314-983_314-970delinsTCTGACGAGGAAAA
ENST00000557933.5:c.676_689delinsTCTGACGAGGAAAA	ENSP00000453557.1:p.Ser226=
ENST00000558013.5:c.676_689delinsTCTGACGAGGAAAA	ENSP00000453346.1:p.Ser226=
ENST00000558518.5:c.676_689delinsTCTGACGAGGAAAA	ENSP00000454071.1:p.Ser226=
ENST00000560467.1:c.276_289delinsTCTGACGAGGAAAA
NM_000527.4:c.676_689delinsTCTGACGAGGAAAA , LRG_274t1:c.676_689delinsTCTGACGAGGAAAA	NP_000518.1:p.Ser226=
NM_001195798.1:c.676_689delinsTCTGACGAGGAAAA	NP_001182727.1:p.Ser226=
NM_001195799.1:c.553_566delinsTCTGACGAGGAAAA	NP_001182728.1:p.Ser185=
NM_001195800.1:c.314-1810_314-1797delinsTCTGACGAGGAAAA	NP_001182729.1:n.314-1810_314-1797delinsTCTGACGAGGAAAA
NM_001195803.1:c.314-983_314-970delinsTCTGACGAGGAAAA	NP_001182732.1:n.314-983_314-970delinsTCTGACGAGGAAAA
XM_011528010.1:c.676_689delinsTCTGACGAGGAAAA	XP_011526312.1:p.Ser226=
XM_011528011.1:c.314-983_314-970delinsTCTGACGAGGAAAA	XP_011526313.1:n.314-983_314-970delinsTCTGACGAGGAAAA
XR_244074.2:n.826_839delinsTCTGACGAGGAAAA
XM_011528010.2:c.676_689delinsTCTGACGAGGAAAA	XP_011526312.1:p.Ser226=
XR_001753685.2:n.793_806delinsTCTGACGAGGAAAA
XR_001753686.2:n.793_806delinsTCTGACGAGGAAAA
NM_000527.5:c.676_689delinsTCTGACGAGGAAAA MANE Select	NP_000518.1:p.Ser226=
NM_001195798.2:c.676_689delinsTCTGACGAGGAAAA	NP_001182727.1:p.Ser226=
NM_001195799.2:c.553_566delinsTCTGACGAGGAAAA	NP_001182728.1:p.Ser185=
NM_001195800.2:c.314-1810_314-1797delinsTCTGACGAGGAAAA	NP_001182729.1:n.314-1810_314-1797delinsTCTGACGAGGAAAA
NM_001195803.2:c.314-983_314-970delinsTCTGACGAGGAAAA	NP_001182732.1:n.314-983_314-970delinsTCTGACGAGGAAAA