Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11117156_11117158del , CM000681.2:g.11117156_11117158del	GRCh38
NC_000019.9:g.11227832_11227834del , CM000681.1:g.11227832_11227834del	GRCh37
NC_000019.8:g.11088832_11088834del	NCBI36
NG_009060.1:g.32776_32778del , LRG_274:g.32776_32778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2103+158_2103+160del	ENSP00000252444.6:n.2103+158_2103+160del
ENST00000559340.2:c.1705+944_1705+946del	ENSP00000453696.2:n.1705+944_1705+946del
ENST00000560467.2:c.1725+158_1725+160del	ENSP00000453513.2:n.1725+158_1725+160del
ENST00000558518.6:c.1845+158_1845+160del MANE Select	ENSP00000454071.1:n.1845+158_1845+160del
ENST00000252444.9:c.2099+158_2099+160del
ENST00000455727.6:c.1341+158_1341+160del	ENSP00000397829.2:n.1341+158_1341+160del
ENST00000535915.5:c.1722+158_1722+160del	ENSP00000440520.1:n.1722+158_1722+160del
ENST00000545707.5:c.1464+158_1464+160del	ENSP00000437639.1:n.1464+158_1464+160del
ENST00000557933.5:c.1845+158_1845+160del	ENSP00000453557.1:n.1845+158_1845+160del
ENST00000558013.5:c.1845+158_1845+160del	ENSP00000453346.1:n.1845+158_1845+160del
ENST00000558518.5:c.1845+158_1845+160del	ENSP00000454071.1:n.1845+158_1845+160del
ENST00000559340.1:c.426+944_426+946del
NM_000527.4:c.1845+158_1845+160del , LRG_274t1:c.1845+158_1845+160del	NP_000518.1:n.1845+158_1845+160del
NM_001195798.1:c.1845+158_1845+160del	NP_001182727.1:n.1845+158_1845+160del
NM_001195799.1:c.1722+158_1722+160del	NP_001182728.1:n.1722+158_1722+160del
NM_001195800.1:c.1341+158_1341+160del	NP_001182729.1:n.1341+158_1341+160del
NM_001195803.1:c.1464+158_1464+160del	NP_001182732.1:n.1464+158_1464+160del
XM_011528010.1:c.1845+158_1845+160del	XP_011526312.1:n.1845+158_1845+160del
XM_011528011.1:c.1464+158_1464+160del	XP_011526313.1:n.1464+158_1464+160del
XR_244074.2:n.1855+944_1855+946del
XM_011528010.2:c.1845+158_1845+160del	XP_011526312.1:n.1845+158_1845+160del
XR_001753685.2:n.1962+158_1962+160del
XR_001753686.2:n.1822+944_1822+946del
NM_000527.5:c.1845+158_1845+160del MANE Select	NP_000518.1:n.1845+158_1845+160del
NM_001195798.2:c.1845+158_1845+160del	NP_001182727.1:n.1845+158_1845+160del
NM_001195799.2:c.1722+158_1722+160del	NP_001182728.1:n.1722+158_1722+160del
NM_001195800.2:c.1341+158_1341+160del	NP_001182729.1:n.1341+158_1341+160del
NM_001195803.2:c.1464+158_1464+160del	NP_001182732.1:n.1464+158_1464+160del