Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11117879_11117892delinsCCTCCCACTTCAGT , CM000681.2:g.11117879_11117892delinsCCTCCCACTTCAGT	GRCh38
NC_000019.9:g.11228555_11228568delinsCCTCCCACTTCAGT , CM000681.1:g.11228555_11228568delinsCCTCCCACTTCAGT	GRCh37
NC_000019.8:g.11089555_11089568delinsCCTCCCACTTCAGT	NCBI36
NG_009060.1:g.33499_33512delinsCCTCCCACTTCAGT , LRG_274:g.33499_33512delinsCCTCCCACTTCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2103+881_2103+894delinsCCTCCCACTTCAGT	ENSP00000252444.6:n.2103+881_2103+894delinsCCTCCCACTTCAGT
ENST00000559340.2:c.1705+1667_1705+1680delinsCCTCCCACTTCAGT	ENSP00000453696.2:n.1705+1667_1705+1680delinsCCTCCCACTTCAGT
ENST00000560467.2:c.1725+881_1725+894delinsCCTCCCACTTCAGT	ENSP00000453513.2:n.1725+881_1725+894delinsCCTCCCACTTCAGT
ENST00000558518.6:c.1845+881_1845+894delinsCCTCCCACTTCAGT MANE Select	ENSP00000454071.1:n.1845+881_1845+894delinsCCTCCCACTTCAGT
ENST00000252444.9:c.2099+881_2099+894delinsCCTCCCACTTCAGT
ENST00000455727.6:c.1341+881_1341+894delinsCCTCCCACTTCAGT	ENSP00000397829.2:n.1341+881_1341+894delinsCCTCCCACTTCAGT
ENST00000535915.5:c.1722+881_1722+894delinsCCTCCCACTTCAGT	ENSP00000440520.1:n.1722+881_1722+894delinsCCTCCCACTTCAGT
ENST00000545707.5:c.1464+881_1464+894delinsCCTCCCACTTCAGT	ENSP00000437639.1:n.1464+881_1464+894delinsCCTCCCACTTCAGT
ENST00000557933.5:c.1845+881_1845+894delinsCCTCCCACTTCAGT	ENSP00000453557.1:n.1845+881_1845+894delinsCCTCCCACTTCAGT
ENST00000558013.5:c.1845+881_1845+894delinsCCTCCCACTTCAGT	ENSP00000453346.1:n.1845+881_1845+894delinsCCTCCCACTTCAGT
ENST00000558518.5:c.1845+881_1845+894delinsCCTCCCACTTCAGT	ENSP00000454071.1:n.1845+881_1845+894delinsCCTCCCACTTCAGT
ENST00000559340.1:c.426+1667_426+1680delinsCCTCCCACTTCAGT
NM_000527.4:c.1845+881_1845+894delinsCCTCCCACTTCAGT , LRG_274t1:c.1845+881_1845+894delinsCCTCCCACTTCAGT	NP_000518.1:n.1845+881_1845+894delinsCCTCCCACTTCAGT
NM_001195798.1:c.1845+881_1845+894delinsCCTCCCACTTCAGT	NP_001182727.1:n.1845+881_1845+894delinsCCTCCCACTTCAGT
NM_001195799.1:c.1722+881_1722+894delinsCCTCCCACTTCAGT	NP_001182728.1:n.1722+881_1722+894delinsCCTCCCACTTCAGT
NM_001195800.1:c.1341+881_1341+894delinsCCTCCCACTTCAGT	NP_001182729.1:n.1341+881_1341+894delinsCCTCCCACTTCAGT
NM_001195803.1:c.1464+881_1464+894delinsCCTCCCACTTCAGT	NP_001182732.1:n.1464+881_1464+894delinsCCTCCCACTTCAGT
XM_011528010.1:c.1845+881_1845+894delinsCCTCCCACTTCAGT	XP_011526312.1:n.1845+881_1845+894delinsCCTCCCACTTCAGT
XM_011528011.1:c.1464+881_1464+894delinsCCTCCCACTTCAGT	XP_011526313.1:n.1464+881_1464+894delinsCCTCCCACTTCAGT
XR_244074.2:n.1855+1667_1855+1680delinsCCTCCCACTTCAGT
XM_011528010.2:c.1845+881_1845+894delinsCCTCCCACTTCAGT	XP_011526312.1:n.1845+881_1845+894delinsCCTCCCACTTCAGT
XR_001753685.2:n.1962+881_1962+894delinsCCTCCCACTTCAGT
XR_001753686.2:n.1822+1667_1822+1680delinsCCTCCCACTTCAGT
NM_000527.5:c.1845+881_1845+894delinsCCTCCCACTTCAGT MANE Select	NP_000518.1:n.1845+881_1845+894delinsCCTCCCACTTCAGT
NM_001195798.2:c.1845+881_1845+894delinsCCTCCCACTTCAGT	NP_001182727.1:n.1845+881_1845+894delinsCCTCCCACTTCAGT
NM_001195799.2:c.1722+881_1722+894delinsCCTCCCACTTCAGT	NP_001182728.1:n.1722+881_1722+894delinsCCTCCCACTTCAGT
NM_001195800.2:c.1341+881_1341+894delinsCCTCCCACTTCAGT	NP_001182729.1:n.1341+881_1341+894delinsCCTCCCACTTCAGT
NM_001195803.2:c.1464+881_1464+894delinsCCTCCCACTTCAGT	NP_001182732.1:n.1464+881_1464+894delinsCCTCCCACTTCAGT