Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120219_11120248delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG , CM000681.2:g.11120219_11120248delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG	GRCh38
NC_000019.9:g.11230895_11230924delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG , CM000681.1:g.11230895_11230924delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG	GRCh37
NC_000019.8:g.11091895_11091924delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG	NCBI36
NG_009060.1:g.35839_35868delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG , LRG_274:g.35839_35868delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2231_2245+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
ENST00000559340.2:c.42_56+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
ENST00000560467.2:c.1853_1867+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
ENST00000558518.6:c.1973_1987+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
ENST00000252444.9:c.2227_2241+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
ENST00000455727.6:c.1469_1483+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
ENST00000535915.5:c.1850_1864+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
ENST00000545707.5:c.1592_1606+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
ENST00000557933.5:c.1973_1987+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
ENST00000558013.5:c.1973_1987+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
ENST00000558518.5:c.1973_1987+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
ENST00000559340.1:c.554_568+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
NM_000527.4:c.1973_1987+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG , LRG_274t1:c.1973_1987+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
NM_001195798.1:c.1973_1987+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
NM_001195799.1:c.1850_1864+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
NM_001195800.1:c.1469_1483+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
NM_001195803.1:c.1592_1606+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
XM_011528010.1:c.1973_1987+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
XM_011528011.1:c.1592_1606+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
XR_244074.2:n.1983_1997+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
XM_011528010.2:c.1973_1987+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
XR_001753685.2:n.2090_2104+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
XR_001753686.2:n.1950_1964+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
NM_000527.5:c.1973_1987+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
NM_001195798.2:c.1973_1987+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
NM_001195799.2:c.1850_1864+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
NM_001195800.2:c.1469_1483+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG
NM_001195803.2:c.1592_1606+15delinsTCACCCAGCCAAGAGGTAAGGGTGGGTCAG