Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116837_11116840delinsCCTT , CM000681.2:g.11116837_11116840delinsCCTT	GRCh38
NC_000019.9:g.11227513_11227516delinsCCTT , CM000681.1:g.11227513_11227516delinsCCTT	GRCh37
NC_000019.8:g.11088513_11088516delinsCCTT	NCBI36
NG_009060.1:g.32457_32460delinsCCTT , LRG_274:g.32457_32460delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1964-22_1964-19delinsCCTT	ENSP00000252444.6:n.1964-22_1964-19delinsCCTT
ENST00000559340.2:c.1705+625_1705+628delinsCCTT	ENSP00000453696.2:n.1705+625_1705+628delinsCCTT
ENST00000560467.2:c.1586-22_1586-19delinsCCTT	ENSP00000453513.2:n.1586-22_1586-19delinsCCTT
ENST00000558518.6:c.1706-22_1706-19delinsCCTT MANE Select	ENSP00000454071.1:n.1706-22_1706-19delinsCCTT
ENST00000252444.9:c.1960-22_1960-19delinsCCTT
ENST00000455727.6:c.1202-22_1202-19delinsCCTT	ENSP00000397829.2:n.1202-22_1202-19delinsCCTT
ENST00000535915.5:c.1583-22_1583-19delinsCCTT	ENSP00000440520.1:n.1583-22_1583-19delinsCCTT
ENST00000545707.5:c.1325-22_1325-19delinsCCTT	ENSP00000437639.1:n.1325-22_1325-19delinsCCTT
ENST00000557933.5:c.1706-22_1706-19delinsCCTT	ENSP00000453557.1:n.1706-22_1706-19delinsCCTT
ENST00000558013.5:c.1706-22_1706-19delinsCCTT	ENSP00000453346.1:n.1706-22_1706-19delinsCCTT
ENST00000558518.5:c.1706-22_1706-19delinsCCTT	ENSP00000454071.1:n.1706-22_1706-19delinsCCTT
ENST00000559340.1:c.426+625_426+628delinsCCTT
NM_000527.4:c.1706-22_1706-19delinsCCTT , LRG_274t1:c.1706-22_1706-19delinsCCTT	NP_000518.1:n.1706-22_1706-19delinsCCTT
NM_001195798.1:c.1706-22_1706-19delinsCCTT	NP_001182727.1:n.1706-22_1706-19delinsCCTT
NM_001195799.1:c.1583-22_1583-19delinsCCTT	NP_001182728.1:n.1583-22_1583-19delinsCCTT
NM_001195800.1:c.1202-22_1202-19delinsCCTT	NP_001182729.1:n.1202-22_1202-19delinsCCTT
NM_001195803.1:c.1325-22_1325-19delinsCCTT	NP_001182732.1:n.1325-22_1325-19delinsCCTT
XM_011528010.1:c.1706-22_1706-19delinsCCTT	XP_011526312.1:n.1706-22_1706-19delinsCCTT
XM_011528011.1:c.1325-22_1325-19delinsCCTT	XP_011526313.1:n.1325-22_1325-19delinsCCTT
XR_244074.2:n.1855+625_1855+628delinsCCTT
XM_011528010.2:c.1706-22_1706-19delinsCCTT	XP_011526312.1:n.1706-22_1706-19delinsCCTT
XR_001753685.2:n.1823-22_1823-19delinsCCTT
XR_001753686.2:n.1822+625_1822+628delinsCCTT
NM_000527.5:c.1706-22_1706-19delinsCCTT MANE Select	NP_000518.1:n.1706-22_1706-19delinsCCTT
NM_001195798.2:c.1706-22_1706-19delinsCCTT	NP_001182727.1:n.1706-22_1706-19delinsCCTT
NM_001195799.2:c.1583-22_1583-19delinsCCTT	NP_001182728.1:n.1583-22_1583-19delinsCCTT
NM_001195800.2:c.1202-22_1202-19delinsCCTT	NP_001182729.1:n.1202-22_1202-19delinsCCTT
NM_001195803.2:c.1325-22_1325-19delinsCCTT	NP_001182732.1:n.1325-22_1325-19delinsCCTT