Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11117147_11117148insGT , CM000681.2:g.11117147_11117148insGT	GRCh38
NC_000019.9:g.11227823_11227824insGT , CM000681.1:g.11227823_11227824insGT	GRCh37
NC_000019.8:g.11088823_11088824insGT	NCBI36
NG_009060.1:g.32767_32768insGT , LRG_274:g.32767_32768insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2103+149_2103+150insGT	ENSP00000252444.6:n.2103+149_2103+150insGT
ENST00000559340.2:c.1705+935_1705+936insGT	ENSP00000453696.2:n.1705+935_1705+936insGT
ENST00000560467.2:c.1725+149_1725+150insGT	ENSP00000453513.2:n.1725+149_1725+150insGT
ENST00000558518.6:c.1845+149_1845+150insGT MANE Select	ENSP00000454071.1:n.1845+149_1845+150insGT
ENST00000252444.9:c.2099+149_2099+150insGT
ENST00000455727.6:c.1341+149_1341+150insGT	ENSP00000397829.2:n.1341+149_1341+150insGT
ENST00000535915.5:c.1722+149_1722+150insGT	ENSP00000440520.1:n.1722+149_1722+150insGT
ENST00000545707.5:c.1464+149_1464+150insGT	ENSP00000437639.1:n.1464+149_1464+150insGT
ENST00000557933.5:c.1845+149_1845+150insGT	ENSP00000453557.1:n.1845+149_1845+150insGT
ENST00000558013.5:c.1845+149_1845+150insGT	ENSP00000453346.1:n.1845+149_1845+150insGT
ENST00000558518.5:c.1845+149_1845+150insGT	ENSP00000454071.1:n.1845+149_1845+150insGT
ENST00000559340.1:c.426+935_426+936insGT
NM_000527.4:c.1845+149_1845+150insGT , LRG_274t1:c.1845+149_1845+150insGT	NP_000518.1:n.1845+149_1845+150insGT
NM_001195798.1:c.1845+149_1845+150insGT	NP_001182727.1:n.1845+149_1845+150insGT
NM_001195799.1:c.1722+149_1722+150insGT	NP_001182728.1:n.1722+149_1722+150insGT
NM_001195800.1:c.1341+149_1341+150insGT	NP_001182729.1:n.1341+149_1341+150insGT
NM_001195803.1:c.1464+149_1464+150insGT	NP_001182732.1:n.1464+149_1464+150insGT
XM_011528010.1:c.1845+149_1845+150insGT	XP_011526312.1:n.1845+149_1845+150insGT
XM_011528011.1:c.1464+149_1464+150insGT	XP_011526313.1:n.1464+149_1464+150insGT
XR_244074.2:n.1855+935_1855+936insGT
XM_011528010.2:c.1845+149_1845+150insGT	XP_011526312.1:n.1845+149_1845+150insGT
XR_001753685.2:n.1962+149_1962+150insGT
XR_001753686.2:n.1822+935_1822+936insGT
NM_000527.5:c.1845+149_1845+150insGT MANE Select	NP_000518.1:n.1845+149_1845+150insGT
NM_001195798.2:c.1845+149_1845+150insGT	NP_001182727.1:n.1845+149_1845+150insGT
NM_001195799.2:c.1722+149_1722+150insGT	NP_001182728.1:n.1722+149_1722+150insGT
NM_001195800.2:c.1341+149_1341+150insGT	NP_001182729.1:n.1341+149_1341+150insGT
NM_001195803.2:c.1464+149_1464+150insGT	NP_001182732.1:n.1464+149_1464+150insGT