Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11118272_11118273delinsTG , CM000681.2:g.11118272_11118273delinsTG	GRCh38
NC_000019.9:g.11228948_11228949delinsTG , CM000681.1:g.11228948_11228949delinsTG	GRCh37
NC_000019.8:g.11089948_11089949delinsTG	NCBI36
NG_009060.1:g.33892_33893delinsTG , LRG_274:g.33892_33893delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2103+1274_2103+1275delinsTG	ENSP00000252444.6:n.2103+1274_2103+1275delinsTG
ENST00000559340.2:c.1706-1820_1706-1819delinsTG	ENSP00000453696.2:n.1706-1820_1706-1819delinsTG
ENST00000560467.2:c.1725+1274_1725+1275delinsTG	ENSP00000453513.2:n.1725+1274_1725+1275delinsTG
ENST00000558518.6:c.1845+1274_1845+1275delinsTG MANE Select	ENSP00000454071.1:n.1845+1274_1845+1275delinsTG
ENST00000252444.9:c.2099+1274_2099+1275delinsTG
ENST00000455727.6:c.1341+1274_1341+1275delinsTG	ENSP00000397829.2:n.1341+1274_1341+1275delinsTG
ENST00000535915.5:c.1722+1274_1722+1275delinsTG	ENSP00000440520.1:n.1722+1274_1722+1275delinsTG
ENST00000545707.5:c.1464+1274_1464+1275delinsTG	ENSP00000437639.1:n.1464+1274_1464+1275delinsTG
ENST00000557933.5:c.1845+1274_1845+1275delinsTG	ENSP00000453557.1:n.1845+1274_1845+1275delinsTG
ENST00000558013.5:c.1845+1274_1845+1275delinsTG	ENSP00000453346.1:n.1845+1274_1845+1275delinsTG
ENST00000558518.5:c.1845+1274_1845+1275delinsTG	ENSP00000454071.1:n.1845+1274_1845+1275delinsTG
ENST00000559340.1:c.427-1820_427-1819delinsTG
NM_000527.4:c.1845+1274_1845+1275delinsTG , LRG_274t1:c.1845+1274_1845+1275delinsTG	NP_000518.1:n.1845+1274_1845+1275delinsTG
NM_001195798.1:c.1845+1274_1845+1275delinsTG	NP_001182727.1:n.1845+1274_1845+1275delinsTG
NM_001195799.1:c.1722+1274_1722+1275delinsTG	NP_001182728.1:n.1722+1274_1722+1275delinsTG
NM_001195800.1:c.1341+1274_1341+1275delinsTG	NP_001182729.1:n.1341+1274_1341+1275delinsTG
NM_001195803.1:c.1464+1274_1464+1275delinsTG	NP_001182732.1:n.1464+1274_1464+1275delinsTG
XM_011528010.1:c.1845+1274_1845+1275delinsTG	XP_011526312.1:n.1845+1274_1845+1275delinsTG
XM_011528011.1:c.1464+1274_1464+1275delinsTG	XP_011526313.1:n.1464+1274_1464+1275delinsTG
XR_244074.2:n.1856-1820_1856-1819delinsTG
XM_011528010.2:c.1845+1274_1845+1275delinsTG	XP_011526312.1:n.1845+1274_1845+1275delinsTG
XR_001753685.2:n.1962+1274_1962+1275delinsTG
XR_001753686.2:n.1823-1820_1823-1819delinsTG
NM_000527.5:c.1845+1274_1845+1275delinsTG MANE Select	NP_000518.1:n.1845+1274_1845+1275delinsTG
NM_001195798.2:c.1845+1274_1845+1275delinsTG	NP_001182727.1:n.1845+1274_1845+1275delinsTG
NM_001195799.2:c.1722+1274_1722+1275delinsTG	NP_001182728.1:n.1722+1274_1722+1275delinsTG
NM_001195800.2:c.1341+1274_1341+1275delinsTG	NP_001182729.1:n.1341+1274_1341+1275delinsTG
NM_001195803.2:c.1464+1274_1464+1275delinsTG	NP_001182732.1:n.1464+1274_1464+1275delinsTG