Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105760_11105765delinsCTTTAT , CM000681.2:g.11105760_11105765delinsCTTTAT	GRCh38
NC_000019.9:g.11216436_11216441delinsCTTTAT , CM000681.1:g.11216436_11216441delinsCTTTAT	GRCh37
NC_000019.8:g.11077436_11077441delinsCTTTAT	NCBI36
NG_009060.1:g.21380_21385delinsCTTTAT , LRG_274:g.21380_21385delinsCTTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+160_952+165delinsCTTTAT	ENSP00000252444.6:n.952+160_952+165delinsCTTTAT
ENST00000559340.2:c.694+160_694+165delinsCTTTAT	ENSP00000453696.2:n.694+160_694+165delinsCTTTAT
ENST00000560467.2:c.694+160_694+165delinsCTTTAT	ENSP00000453513.2:n.694+160_694+165delinsCTTTAT
ENST00000558518.6:c.694+160_694+165delinsCTTTAT MANE Select	ENSP00000454071.1:n.694+160_694+165delinsCTTTAT
ENST00000252444.9:c.948+160_948+165delinsCTTTAT
ENST00000455727.6:c.314-1632_314-1627delinsCTTTAT	ENSP00000397829.2:n.314-1632_314-1627delinsCTTTAT
ENST00000535915.5:c.571+160_571+165delinsCTTTAT	ENSP00000440520.1:n.571+160_571+165delinsCTTTAT
ENST00000545707.5:c.314-805_314-800delinsCTTTAT	ENSP00000437639.1:n.314-805_314-800delinsCTTTAT
ENST00000557933.5:c.694+160_694+165delinsCTTTAT	ENSP00000453557.1:n.694+160_694+165delinsCTTTAT
ENST00000558013.5:c.694+160_694+165delinsCTTTAT	ENSP00000453346.1:n.694+160_694+165delinsCTTTAT
ENST00000558518.5:c.694+160_694+165delinsCTTTAT	ENSP00000454071.1:n.694+160_694+165delinsCTTTAT
ENST00000560467.1:c.294+160_294+165delinsCTTTAT
NM_000527.4:c.694+160_694+165delinsCTTTAT , LRG_274t1:c.694+160_694+165delinsCTTTAT	NP_000518.1:n.694+160_694+165delinsCTTTAT
NM_001195798.1:c.694+160_694+165delinsCTTTAT	NP_001182727.1:n.694+160_694+165delinsCTTTAT
NM_001195799.1:c.571+160_571+165delinsCTTTAT	NP_001182728.1:n.571+160_571+165delinsCTTTAT
NM_001195800.1:c.314-1632_314-1627delinsCTTTAT	NP_001182729.1:n.314-1632_314-1627delinsCTTTAT
NM_001195803.1:c.314-805_314-800delinsCTTTAT	NP_001182732.1:n.314-805_314-800delinsCTTTAT
XM_011528010.1:c.694+160_694+165delinsCTTTAT	XP_011526312.1:n.694+160_694+165delinsCTTTAT
XM_011528011.1:c.314-805_314-800delinsCTTTAT	XP_011526313.1:n.314-805_314-800delinsCTTTAT
XR_244074.2:n.844+160_844+165delinsCTTTAT
XM_011528010.2:c.694+160_694+165delinsCTTTAT	XP_011526312.1:n.694+160_694+165delinsCTTTAT
XR_001753685.2:n.811+160_811+165delinsCTTTAT
XR_001753686.2:n.811+160_811+165delinsCTTTAT
NM_000527.5:c.694+160_694+165delinsCTTTAT MANE Select	NP_000518.1:n.694+160_694+165delinsCTTTAT
NM_001195798.2:c.694+160_694+165delinsCTTTAT	NP_001182727.1:n.694+160_694+165delinsCTTTAT
NM_001195799.2:c.571+160_571+165delinsCTTTAT	NP_001182728.1:n.571+160_571+165delinsCTTTAT
NM_001195800.2:c.314-1632_314-1627delinsCTTTAT	NP_001182729.1:n.314-1632_314-1627delinsCTTTAT
NM_001195803.2:c.314-805_314-800delinsCTTTAT	NP_001182732.1:n.314-805_314-800delinsCTTTAT