Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11117138_11117145delinsCTTTTTTT , CM000681.2:g.11117138_11117145delinsCTTTTTTT	GRCh38
NC_000019.9:g.11227814_11227821delinsCTTTTTTT , CM000681.1:g.11227814_11227821delinsCTTTTTTT	GRCh37
NC_000019.8:g.11088814_11088821delinsCTTTTTTT	NCBI36
NG_009060.1:g.32758_32765delinsCTTTTTTT , LRG_274:g.32758_32765delinsCTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2103+140_2103+147delinsCTTTTTTT	ENSP00000252444.6:n.2103+140_2103+147delinsCTTTTTTT
ENST00000559340.2:c.1705+926_1705+933delinsCTTTTTTT	ENSP00000453696.2:n.1705+926_1705+933delinsCTTTTTTT
ENST00000560467.2:c.1725+140_1725+147delinsCTTTTTTT	ENSP00000453513.2:n.1725+140_1725+147delinsCTTTTTTT
ENST00000558518.6:c.1845+140_1845+147delinsCTTTTTTT MANE Select	ENSP00000454071.1:n.1845+140_1845+147delinsCTTTTTTT
ENST00000252444.9:c.2099+140_2099+147delinsCTTTTTTT
ENST00000455727.6:c.1341+140_1341+147delinsCTTTTTTT	ENSP00000397829.2:n.1341+140_1341+147delinsCTTTTTTT
ENST00000535915.5:c.1722+140_1722+147delinsCTTTTTTT	ENSP00000440520.1:n.1722+140_1722+147delinsCTTTTTTT
ENST00000545707.5:c.1464+140_1464+147delinsCTTTTTTT	ENSP00000437639.1:n.1464+140_1464+147delinsCTTTTTTT
ENST00000557933.5:c.1845+140_1845+147delinsCTTTTTTT	ENSP00000453557.1:n.1845+140_1845+147delinsCTTTTTTT
ENST00000558013.5:c.1845+140_1845+147delinsCTTTTTTT	ENSP00000453346.1:n.1845+140_1845+147delinsCTTTTTTT
ENST00000558518.5:c.1845+140_1845+147delinsCTTTTTTT	ENSP00000454071.1:n.1845+140_1845+147delinsCTTTTTTT
ENST00000559340.1:c.426+926_426+933delinsCTTTTTTT
NM_000527.4:c.1845+140_1845+147delinsCTTTTTTT , LRG_274t1:c.1845+140_1845+147delinsCTTTTTTT	NP_000518.1:n.1845+140_1845+147delinsCTTTTTTT
NM_001195798.1:c.1845+140_1845+147delinsCTTTTTTT	NP_001182727.1:n.1845+140_1845+147delinsCTTTTTTT
NM_001195799.1:c.1722+140_1722+147delinsCTTTTTTT	NP_001182728.1:n.1722+140_1722+147delinsCTTTTTTT
NM_001195800.1:c.1341+140_1341+147delinsCTTTTTTT	NP_001182729.1:n.1341+140_1341+147delinsCTTTTTTT
NM_001195803.1:c.1464+140_1464+147delinsCTTTTTTT	NP_001182732.1:n.1464+140_1464+147delinsCTTTTTTT
XM_011528010.1:c.1845+140_1845+147delinsCTTTTTTT	XP_011526312.1:n.1845+140_1845+147delinsCTTTTTTT
XM_011528011.1:c.1464+140_1464+147delinsCTTTTTTT	XP_011526313.1:n.1464+140_1464+147delinsCTTTTTTT
XR_244074.2:n.1855+926_1855+933delinsCTTTTTTT
XM_011528010.2:c.1845+140_1845+147delinsCTTTTTTT	XP_011526312.1:n.1845+140_1845+147delinsCTTTTTTT
XR_001753685.2:n.1962+140_1962+147delinsCTTTTTTT
XR_001753686.2:n.1822+926_1822+933delinsCTTTTTTT
NM_000527.5:c.1845+140_1845+147delinsCTTTTTTT MANE Select	NP_000518.1:n.1845+140_1845+147delinsCTTTTTTT
NM_001195798.2:c.1845+140_1845+147delinsCTTTTTTT	NP_001182727.1:n.1845+140_1845+147delinsCTTTTTTT
NM_001195799.2:c.1722+140_1722+147delinsCTTTTTTT	NP_001182728.1:n.1722+140_1722+147delinsCTTTTTTT
NM_001195800.2:c.1341+140_1341+147delinsCTTTTTTT	NP_001182729.1:n.1341+140_1341+147delinsCTTTTTTT
NM_001195803.2:c.1464+140_1464+147delinsCTTTTTTT	NP_001182732.1:n.1464+140_1464+147delinsCTTTTTTT