Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123145_11123146insAAATACCAT , CM000681.2:g.11123145_11123146insAAATACCAT	GRCh38
NC_000019.9:g.11233821_11233822insAAATACCAT , CM000681.1:g.11233821_11233822insAAATACCAT	GRCh37
NC_000019.8:g.11094821_11094822insAAATACCAT	NCBI36
NG_009060.1:g.38765_38766insAAATACCAT , LRG_274:g.38765_38766insAAATACCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2399-29_2399-28insAAATACCAT	ENSP00000252444.6:n.2399-29_2399-28insAAATACCAT
ENST00000559340.2:c.210-29_210-28insAAATACCAT	ENSP00000453696.2:n.210-29_210-28insAAATACCAT
ENST00000560467.2:c.2021-29_2021-28insAAATACCAT	ENSP00000453513.2:n.2021-29_2021-28insAAATACCAT
ENST00000558518.6:c.2141-29_2141-28insAAATACCAT MANE Select	ENSP00000454071.1:n.2141-29_2141-28insAAATACCAT
ENST00000252444.9:c.2395-29_2395-28insAAATACCAT
ENST00000455727.6:c.1637-29_1637-28insAAATACCAT	ENSP00000397829.2:n.1637-29_1637-28insAAATACCAT
ENST00000535915.5:c.2018-29_2018-28insAAATACCAT	ENSP00000440520.1:n.2018-29_2018-28insAAATACCAT
ENST00000545707.5:c.1607-29_1607-28insAAATACCAT	ENSP00000437639.1:n.1607-29_1607-28insAAATACCAT
ENST00000557933.5:c.2141-29_2141-28insAAATACCAT	ENSP00000453557.1:n.2141-29_2141-28insAAATACCAT
ENST00000558013.5:c.2141-29_2141-28insAAATACCAT	ENSP00000453346.1:n.2141-29_2141-28insAAATACCAT
ENST00000558518.5:c.2141-29_2141-28insAAATACCAT	ENSP00000454071.1:n.2141-29_2141-28insAAATACCAT
NM_000527.4:c.2141-29_2141-28insAAATACCAT , LRG_274t1:c.2141-29_2141-28insAAATACCAT	NP_000518.1:n.2141-29_2141-28insAAATACCAT
NM_001195798.1:c.2141-29_2141-28insAAATACCAT	NP_001182727.1:n.2141-29_2141-28insAAATACCAT
NM_001195799.1:c.2018-29_2018-28insAAATACCAT	NP_001182728.1:n.2018-29_2018-28insAAATACCAT
NM_001195800.1:c.1637-29_1637-28insAAATACCAT	NP_001182729.1:n.1637-29_1637-28insAAATACCAT
NM_001195803.1:c.1607-29_1607-28insAAATACCAT	NP_001182732.1:n.1607-29_1607-28insAAATACCAT
XM_011528010.1:c.2141-29_2141-28insAAATACCAT	XP_011526312.1:n.2141-29_2141-28insAAATACCAT
XM_011528011.1:c.1760-29_1760-28insAAATACCAT	XP_011526313.1:n.1760-29_1760-28insAAATACCAT
XR_244074.2:n.2151-29_2151-28insAAATACCAT
XM_011528010.2:c.2141-29_2141-28insAAATACCAT	XP_011526312.1:n.2141-29_2141-28insAAATACCAT
XR_001753685.2:n.2475-29_2475-28insAAATACCAT
XR_001753686.2:n.2118-29_2118-28insAAATACCAT
NM_000527.5:c.2141-29_2141-28insAAATACCAT MANE Select	NP_000518.1:n.2141-29_2141-28insAAATACCAT
NM_001195798.2:c.2141-29_2141-28insAAATACCAT	NP_001182727.1:n.2141-29_2141-28insAAATACCAT
NM_001195799.2:c.2018-29_2018-28insAAATACCAT	NP_001182728.1:n.2018-29_2018-28insAAATACCAT
NM_001195800.2:c.1637-29_1637-28insAAATACCAT	NP_001182729.1:n.1637-29_1637-28insAAATACCAT
NM_001195803.2:c.1607-29_1607-28insAAATACCAT	NP_001182732.1:n.1607-29_1607-28insAAATACCAT