Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11117128_11117131delinsTTTC , CM000681.2:g.11117128_11117131delinsTTTC	GRCh38
NC_000019.9:g.11227804_11227807delinsTTTC , CM000681.1:g.11227804_11227807delinsTTTC	GRCh37
NC_000019.8:g.11088804_11088807delinsTTTC	NCBI36
NG_009060.1:g.32748_32751delinsTTTC , LRG_274:g.32748_32751delinsTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2103+130_2103+133delinsTTTC	ENSP00000252444.6:n.2103+130_2103+133delinsTTTC
ENST00000559340.2:c.1705+916_1705+919delinsTTTC	ENSP00000453696.2:n.1705+916_1705+919delinsTTTC
ENST00000560467.2:c.1725+130_1725+133delinsTTTC	ENSP00000453513.2:n.1725+130_1725+133delinsTTTC
ENST00000558518.6:c.1845+130_1845+133delinsTTTC MANE Select	ENSP00000454071.1:n.1845+130_1845+133delinsTTTC
ENST00000252444.9:c.2099+130_2099+133delinsTTTC
ENST00000455727.6:c.1341+130_1341+133delinsTTTC	ENSP00000397829.2:n.1341+130_1341+133delinsTTTC
ENST00000535915.5:c.1722+130_1722+133delinsTTTC	ENSP00000440520.1:n.1722+130_1722+133delinsTTTC
ENST00000545707.5:c.1464+130_1464+133delinsTTTC	ENSP00000437639.1:n.1464+130_1464+133delinsTTTC
ENST00000557933.5:c.1845+130_1845+133delinsTTTC	ENSP00000453557.1:n.1845+130_1845+133delinsTTTC
ENST00000558013.5:c.1845+130_1845+133delinsTTTC	ENSP00000453346.1:n.1845+130_1845+133delinsTTTC
ENST00000558518.5:c.1845+130_1845+133delinsTTTC	ENSP00000454071.1:n.1845+130_1845+133delinsTTTC
ENST00000559340.1:c.426+916_426+919delinsTTTC
NM_000527.4:c.1845+130_1845+133delinsTTTC , LRG_274t1:c.1845+130_1845+133delinsTTTC	NP_000518.1:n.1845+130_1845+133delinsTTTC
NM_001195798.1:c.1845+130_1845+133delinsTTTC	NP_001182727.1:n.1845+130_1845+133delinsTTTC
NM_001195799.1:c.1722+130_1722+133delinsTTTC	NP_001182728.1:n.1722+130_1722+133delinsTTTC
NM_001195800.1:c.1341+130_1341+133delinsTTTC	NP_001182729.1:n.1341+130_1341+133delinsTTTC
NM_001195803.1:c.1464+130_1464+133delinsTTTC	NP_001182732.1:n.1464+130_1464+133delinsTTTC
XM_011528010.1:c.1845+130_1845+133delinsTTTC	XP_011526312.1:n.1845+130_1845+133delinsTTTC
XM_011528011.1:c.1464+130_1464+133delinsTTTC	XP_011526313.1:n.1464+130_1464+133delinsTTTC
XR_244074.2:n.1855+916_1855+919delinsTTTC
XM_011528010.2:c.1845+130_1845+133delinsTTTC	XP_011526312.1:n.1845+130_1845+133delinsTTTC
XR_001753685.2:n.1962+130_1962+133delinsTTTC
XR_001753686.2:n.1822+916_1822+919delinsTTTC
NM_000527.5:c.1845+130_1845+133delinsTTTC MANE Select	NP_000518.1:n.1845+130_1845+133delinsTTTC
NM_001195798.2:c.1845+130_1845+133delinsTTTC	NP_001182727.1:n.1845+130_1845+133delinsTTTC
NM_001195799.2:c.1722+130_1722+133delinsTTTC	NP_001182728.1:n.1722+130_1722+133delinsTTTC
NM_001195800.2:c.1341+130_1341+133delinsTTTC	NP_001182729.1:n.1341+130_1341+133delinsTTTC
NM_001195803.2:c.1464+130_1464+133delinsTTTC	NP_001182732.1:n.1464+130_1464+133delinsTTTC