Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105487_11105494delinsGTAGCCCC , CM000681.2:g.11105487_11105494delinsGTAGCCCC	GRCh38
NC_000019.9:g.11216163_11216170delinsGTAGCCCC , CM000681.1:g.11216163_11216170delinsGTAGCCCC	GRCh37
NC_000019.8:g.11077163_11077170delinsGTAGCCCC	NCBI36
NG_009060.1:g.21107_21114delinsGTAGCCCC , LRG_274:g.21107_21114delinsGTAGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.839_846delinsGTAGCCCC	ENSP00000252444.6:p.Ser280=
ENST00000559340.2:c.581_588delinsGTAGCCCC	ENSP00000453696.2:p.Ser194=
ENST00000560467.2:c.581_588delinsGTAGCCCC	ENSP00000453513.2:p.Ser194=
ENST00000558518.6:c.581_588delinsGTAGCCCC MANE Select	ENSP00000454071.1:p.Ser194=
ENST00000252444.9:c.835_842delinsGTAGCCCC
ENST00000455727.6:c.314-1905_314-1898delinsGTAGCCCC	ENSP00000397829.2:n.314-1905_314-1898delinsGTAGCCCC
ENST00000535915.5:c.458_465delinsGTAGCCCC	ENSP00000440520.1:p.Ser153=
ENST00000545707.5:c.314-1078_314-1071delinsGTAGCCCC	ENSP00000437639.1:n.314-1078_314-1071delinsGTAGCCCC
ENST00000557933.5:c.581_588delinsGTAGCCCC	ENSP00000453557.1:p.Ser194=
ENST00000558013.5:c.581_588delinsGTAGCCCC	ENSP00000453346.1:p.Ser194=
ENST00000558518.5:c.581_588delinsGTAGCCCC	ENSP00000454071.1:p.Ser194=
ENST00000560467.1:c.181_188delinsGTAGCCCC
NM_000527.4:c.581_588delinsGTAGCCCC , LRG_274t1:c.581_588delinsGTAGCCCC	NP_000518.1:p.Ser194=
NM_001195798.1:c.581_588delinsGTAGCCCC	NP_001182727.1:p.Ser194=
NM_001195799.1:c.458_465delinsGTAGCCCC	NP_001182728.1:p.Ser153=
NM_001195800.1:c.314-1905_314-1898delinsGTAGCCCC	NP_001182729.1:n.314-1905_314-1898delinsGTAGCCCC
NM_001195803.1:c.314-1078_314-1071delinsGTAGCCCC	NP_001182732.1:n.314-1078_314-1071delinsGTAGCCCC
XM_011528010.1:c.581_588delinsGTAGCCCC	XP_011526312.1:p.Ser194=
XM_011528011.1:c.314-1078_314-1071delinsGTAGCCCC	XP_011526313.1:n.314-1078_314-1071delinsGTAGCCCC
XR_244074.2:n.731_738delinsGTAGCCCC
XM_011528010.2:c.581_588delinsGTAGCCCC	XP_011526312.1:p.Ser194=
XR_001753685.2:n.698_705delinsGTAGCCCC
XR_001753686.2:n.698_705delinsGTAGCCCC
NM_000527.5:c.581_588delinsGTAGCCCC MANE Select	NP_000518.1:p.Ser194=
NM_001195798.2:c.581_588delinsGTAGCCCC	NP_001182727.1:p.Ser194=
NM_001195799.2:c.458_465delinsGTAGCCCC	NP_001182728.1:p.Ser153=
NM_001195800.2:c.314-1905_314-1898delinsGTAGCCCC	NP_001182729.1:n.314-1905_314-1898delinsGTAGCCCC
NM_001195803.2:c.314-1078_314-1071delinsGTAGCCCC	NP_001182732.1:n.314-1078_314-1071delinsGTAGCCCC