Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11118295_11118297delinsCAT , CM000681.2:g.11118295_11118297delinsCAT	GRCh38
NC_000019.9:g.11228971_11228973delinsCAT , CM000681.1:g.11228971_11228973delinsCAT	GRCh37
NC_000019.8:g.11089971_11089973delinsCAT	NCBI36
NG_009060.1:g.33915_33917delinsCAT , LRG_274:g.33915_33917delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2103+1297_2103+1299delinsCAT	ENSP00000252444.6:n.2103+1297_2103+1299delinsCAT
ENST00000559340.2:c.1706-1797_1706-1795delinsCAT	ENSP00000453696.2:n.1706-1797_1706-1795delinsCAT
ENST00000560467.2:c.1725+1297_1725+1299delinsCAT	ENSP00000453513.2:n.1725+1297_1725+1299delinsCAT
ENST00000558518.6:c.1845+1297_1845+1299delinsCAT MANE Select	ENSP00000454071.1:n.1845+1297_1845+1299delinsCAT
ENST00000252444.9:c.2099+1297_2099+1299delinsCAT
ENST00000455727.6:c.1341+1297_1341+1299delinsCAT	ENSP00000397829.2:n.1341+1297_1341+1299delinsCAT
ENST00000535915.5:c.1722+1297_1722+1299delinsCAT	ENSP00000440520.1:n.1722+1297_1722+1299delinsCAT
ENST00000545707.5:c.1464+1297_1464+1299delinsCAT	ENSP00000437639.1:n.1464+1297_1464+1299delinsCAT
ENST00000557933.5:c.1845+1297_1845+1299delinsCAT	ENSP00000453557.1:n.1845+1297_1845+1299delinsCAT
ENST00000558013.5:c.1845+1297_1845+1299delinsCAT	ENSP00000453346.1:n.1845+1297_1845+1299delinsCAT
ENST00000558518.5:c.1845+1297_1845+1299delinsCAT	ENSP00000454071.1:n.1845+1297_1845+1299delinsCAT
ENST00000559340.1:c.427-1797_427-1795delinsCAT
NM_000527.4:c.1845+1297_1845+1299delinsCAT , LRG_274t1:c.1845+1297_1845+1299delinsCAT	NP_000518.1:n.1845+1297_1845+1299delinsCAT
NM_001195798.1:c.1845+1297_1845+1299delinsCAT	NP_001182727.1:n.1845+1297_1845+1299delinsCAT
NM_001195799.1:c.1722+1297_1722+1299delinsCAT	NP_001182728.1:n.1722+1297_1722+1299delinsCAT
NM_001195800.1:c.1341+1297_1341+1299delinsCAT	NP_001182729.1:n.1341+1297_1341+1299delinsCAT
NM_001195803.1:c.1464+1297_1464+1299delinsCAT	NP_001182732.1:n.1464+1297_1464+1299delinsCAT
XM_011528010.1:c.1845+1297_1845+1299delinsCAT	XP_011526312.1:n.1845+1297_1845+1299delinsCAT
XM_011528011.1:c.1464+1297_1464+1299delinsCAT	XP_011526313.1:n.1464+1297_1464+1299delinsCAT
XR_244074.2:n.1856-1797_1856-1795delinsCAT
XM_011528010.2:c.1845+1297_1845+1299delinsCAT	XP_011526312.1:n.1845+1297_1845+1299delinsCAT
XR_001753685.2:n.1962+1297_1962+1299delinsCAT
XR_001753686.2:n.1823-1797_1823-1795delinsCAT
NM_000527.5:c.1845+1297_1845+1299delinsCAT MANE Select	NP_000518.1:n.1845+1297_1845+1299delinsCAT
NM_001195798.2:c.1845+1297_1845+1299delinsCAT	NP_001182727.1:n.1845+1297_1845+1299delinsCAT
NM_001195799.2:c.1722+1297_1722+1299delinsCAT	NP_001182728.1:n.1722+1297_1722+1299delinsCAT
NM_001195800.2:c.1341+1297_1341+1299delinsCAT	NP_001182729.1:n.1341+1297_1341+1299delinsCAT
NM_001195803.2:c.1464+1297_1464+1299delinsCAT	NP_001182732.1:n.1464+1297_1464+1299delinsCAT