Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11114974_11114978delinsCCTGA , CM000681.2:g.11114974_11114978delinsCCTGA	GRCh38
NC_000019.9:g.11225650_11225654delinsCCTGA , CM000681.1:g.11225650_11225654delinsCCTGA	GRCh37
NC_000019.8:g.11086650_11086654delinsCCTGA	NCBI36
NG_009060.1:g.30594_30598delinsCCTGA , LRG_274:g.30594_30598delinsCCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1845-1120_1845-1116delinsCCTGA	ENSP00000252444.6:n.1845-1120_1845-1116delinsCCTGA
ENST00000559340.2:c.1587-1120_1587-1116delinsCCTGA	ENSP00000453696.2:n.1587-1120_1587-1116delinsCCTGA
ENST00000560467.2:c.1467-1120_1467-1116delinsCCTGA	ENSP00000453513.2:n.1467-1120_1467-1116delinsCCTGA
ENST00000558518.6:c.1587-1120_1587-1116delinsCCTGA MANE Select	ENSP00000454071.1:n.1587-1120_1587-1116delinsCCTGA
ENST00000252444.9:c.1841-1120_1841-1116delinsCCTGA
ENST00000455727.6:c.1083-1120_1083-1116delinsCCTGA	ENSP00000397829.2:n.1083-1120_1083-1116delinsCCTGA
ENST00000535915.5:c.1464-1120_1464-1116delinsCCTGA	ENSP00000440520.1:n.1464-1120_1464-1116delinsCCTGA
ENST00000545707.5:c.1206-1120_1206-1116delinsCCTGA	ENSP00000437639.1:n.1206-1120_1206-1116delinsCCTGA
ENST00000557933.5:c.1587-1120_1587-1116delinsCCTGA	ENSP00000453557.1:n.1587-1120_1587-1116delinsCCTGA
ENST00000558013.5:c.1587-1120_1587-1116delinsCCTGA	ENSP00000453346.1:n.1587-1120_1587-1116delinsCCTGA
ENST00000558518.5:c.1587-1120_1587-1116delinsCCTGA	ENSP00000454071.1:n.1587-1120_1587-1116delinsCCTGA
ENST00000559340.1:c.308-1120_308-1116delinsCCTGA
NM_000527.4:c.1587-1120_1587-1116delinsCCTGA , LRG_274t1:c.1587-1120_1587-1116delinsCCTGA	NP_000518.1:n.1587-1120_1587-1116delinsCCTGA
NM_001195798.1:c.1587-1120_1587-1116delinsCCTGA	NP_001182727.1:n.1587-1120_1587-1116delinsCCTGA
NM_001195799.1:c.1464-1120_1464-1116delinsCCTGA	NP_001182728.1:n.1464-1120_1464-1116delinsCCTGA
NM_001195800.1:c.1083-1120_1083-1116delinsCCTGA	NP_001182729.1:n.1083-1120_1083-1116delinsCCTGA
NM_001195803.1:c.1206-1120_1206-1116delinsCCTGA	NP_001182732.1:n.1206-1120_1206-1116delinsCCTGA
XM_011528010.1:c.1587-1120_1587-1116delinsCCTGA	XP_011526312.1:n.1587-1120_1587-1116delinsCCTGA
XM_011528011.1:c.1206-1120_1206-1116delinsCCTGA	XP_011526313.1:n.1206-1120_1206-1116delinsCCTGA
XR_244074.2:n.1737-1120_1737-1116delinsCCTGA
XM_011528010.2:c.1587-1120_1587-1116delinsCCTGA	XP_011526312.1:n.1587-1120_1587-1116delinsCCTGA
XR_001753685.2:n.1704-1120_1704-1116delinsCCTGA
XR_001753686.2:n.1704-1120_1704-1116delinsCCTGA
NM_000527.5:c.1587-1120_1587-1116delinsCCTGA MANE Select	NP_000518.1:n.1587-1120_1587-1116delinsCCTGA
NM_001195798.2:c.1587-1120_1587-1116delinsCCTGA	NP_001182727.1:n.1587-1120_1587-1116delinsCCTGA
NM_001195799.2:c.1464-1120_1464-1116delinsCCTGA	NP_001182728.1:n.1464-1120_1464-1116delinsCCTGA
NM_001195800.2:c.1083-1120_1083-1116delinsCCTGA	NP_001182729.1:n.1083-1120_1083-1116delinsCCTGA
NM_001195803.2:c.1206-1120_1206-1116delinsCCTGA	NP_001182732.1:n.1206-1120_1206-1116delinsCCTGA