Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120527_11120531delinsAGCAT , CM000681.2:g.11120527_11120531delinsAGCAT	GRCh38
NC_000019.9:g.11231203_11231207delinsAGCAT , CM000681.1:g.11231203_11231207delinsAGCAT	GRCh37
NC_000019.8:g.11092203_11092207delinsAGCAT	NCBI36
NG_009060.1:g.36147_36151delinsAGCAT , LRG_274:g.36147_36151delinsAGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2398+5_2398+9delinsAGCAT	ENSP00000252444.6:n.2398+5_2398+9delinsAGCAT
ENST00000559340.2:c.209+5_209+9delinsAGCAT	ENSP00000453696.2:n.209+5_209+9delinsAGCAT
ENST00000560467.2:c.2020+5_2020+9delinsAGCAT	ENSP00000453513.2:n.2020+5_2020+9delinsAGCAT
ENST00000558518.6:c.2140+5_2140+9delinsAGCAT MANE Select	ENSP00000454071.1:n.2140+5_2140+9delinsAGCAT
ENST00000252444.9:c.2394+5_2394+9delinsAGCAT
ENST00000455727.6:c.1636+5_1636+9delinsAGCAT	ENSP00000397829.2:n.1636+5_1636+9delinsAGCAT
ENST00000535915.5:c.2017+5_2017+9delinsAGCAT	ENSP00000440520.1:n.2017+5_2017+9delinsAGCAT
ENST00000545707.5:c.1606+294_1606+298delinsAGCAT	ENSP00000437639.1:n.1606+294_1606+298delinsAGCAT
ENST00000557933.5:c.2140+5_2140+9delinsAGCAT	ENSP00000453557.1:n.2140+5_2140+9delinsAGCAT
ENST00000558013.5:c.2140+5_2140+9delinsAGCAT	ENSP00000453346.1:n.2140+5_2140+9delinsAGCAT
ENST00000558518.5:c.2140+5_2140+9delinsAGCAT	ENSP00000454071.1:n.2140+5_2140+9delinsAGCAT
NM_000527.4:c.2140+5_2140+9delinsAGCAT , LRG_274t1:c.2140+5_2140+9delinsAGCAT	NP_000518.1:n.2140+5_2140+9delinsAGCAT
NM_001195798.1:c.2140+5_2140+9delinsAGCAT	NP_001182727.1:n.2140+5_2140+9delinsAGCAT
NM_001195799.1:c.2017+5_2017+9delinsAGCAT	NP_001182728.1:n.2017+5_2017+9delinsAGCAT
NM_001195800.1:c.1636+5_1636+9delinsAGCAT	NP_001182729.1:n.1636+5_1636+9delinsAGCAT
NM_001195803.1:c.1606+294_1606+298delinsAGCAT	NP_001182732.1:n.1606+294_1606+298delinsAGCAT
XM_011528010.1:c.2140+5_2140+9delinsAGCAT	XP_011526312.1:n.2140+5_2140+9delinsAGCAT
XM_011528011.1:c.1759+5_1759+9delinsAGCAT	XP_011526313.1:n.1759+5_1759+9delinsAGCAT
XR_244074.2:n.2150+5_2150+9delinsAGCAT
XM_011528010.2:c.2140+5_2140+9delinsAGCAT	XP_011526312.1:n.2140+5_2140+9delinsAGCAT
XR_001753685.2:n.2262_2266delinsAGCAT
XR_001753686.2:n.2117+5_2117+9delinsAGCAT
NM_000527.5:c.2140+5_2140+9delinsAGCAT MANE Select	NP_000518.1:n.2140+5_2140+9delinsAGCAT
NM_001195798.2:c.2140+5_2140+9delinsAGCAT	NP_001182727.1:n.2140+5_2140+9delinsAGCAT
NM_001195799.2:c.2017+5_2017+9delinsAGCAT	NP_001182728.1:n.2017+5_2017+9delinsAGCAT
NM_001195800.2:c.1636+5_1636+9delinsAGCAT	NP_001182729.1:n.1636+5_1636+9delinsAGCAT
NM_001195803.2:c.1606+294_1606+298delinsAGCAT	NP_001182732.1:n.1606+294_1606+298delinsAGCAT