Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105563_11105566delinsATGGT , CM000681.2:g.11105563_11105566delinsATGGT	GRCh38
NC_000019.9:g.11216239_11216242delinsATGGT , CM000681.1:g.11216239_11216242delinsATGGT	GRCh37
NC_000019.8:g.11077239_11077242delinsATGGT	NCBI36
NG_009060.1:g.21183_21186delinsATGGT , LRG_274:g.21183_21186delinsATGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.915_918delinsATGGT	ENSP00000252444.6:p.Pro306TrpfsTer2
ENST00000559340.2:c.657_660delinsATGGT	ENSP00000453696.2:p.Pro220TrpfsTer2
ENST00000560467.2:c.657_660delinsATGGT	ENSP00000453513.2:p.Pro220TrpfsTer2
ENST00000558518.6:c.657_660delinsATGGT MANE Select	ENSP00000454071.1:p.Pro220TrpfsTer2
ENST00000252444.9:c.911_914delinsATGGT
ENST00000455727.6:c.314-1829_314-1826delinsATGGT	ENSP00000397829.2:n.314-1829_314-1826delinsATGGT
ENST00000535915.5:c.534_537delinsATGGT	ENSP00000440520.1:p.Pro179TrpfsTer2
ENST00000545707.5:c.314-1002_314-999delinsATGGT	ENSP00000437639.1:n.314-1002_314-999delinsATGGT
ENST00000557933.5:c.657_660delinsATGGT	ENSP00000453557.1:p.Pro220TrpfsTer2
ENST00000558013.5:c.657_660delinsATGGT	ENSP00000453346.1:p.Pro220TrpfsTer2
ENST00000558518.5:c.657_660delinsATGGT	ENSP00000454071.1:p.Pro220TrpfsTer2
ENST00000560467.1:c.257_260delinsATGGT
NM_000527.4:c.657_660delinsATGGT , LRG_274t1:c.657_660delinsATGGT	NP_000518.1:p.Pro220TrpfsTer2
NM_001195798.1:c.657_660delinsATGGT	NP_001182727.1:p.Pro220TrpfsTer2
NM_001195799.1:c.534_537delinsATGGT	NP_001182728.1:p.Pro179TrpfsTer2
NM_001195800.1:c.314-1829_314-1826delinsATGGT	NP_001182729.1:n.314-1829_314-1826delinsATGGT
NM_001195803.1:c.314-1002_314-999delinsATGGT	NP_001182732.1:n.314-1002_314-999delinsATGGT
XM_011528010.1:c.657_660delinsATGGT	XP_011526312.1:p.Pro220TrpfsTer2
XM_011528011.1:c.314-1002_314-999delinsATGGT	XP_011526313.1:n.314-1002_314-999delinsATGGT
XR_244074.2:n.807_810delinsATGGT
XM_011528010.2:c.657_660delinsATGGT	XP_011526312.1:p.Pro220TrpfsTer2
XR_001753685.2:n.774_777delinsATGGT
XR_001753686.2:n.774_777delinsATGGT
NM_000527.5:c.657_660delinsATGGT MANE Select	NP_000518.1:p.Pro220TrpfsTer2
NM_001195798.2:c.657_660delinsATGGT	NP_001182727.1:p.Pro220TrpfsTer2
NM_001195799.2:c.534_537delinsATGGT	NP_001182728.1:p.Pro179TrpfsTer2
NM_001195800.2:c.314-1829_314-1826delinsATGGT	NP_001182729.1:n.314-1829_314-1826delinsATGGT
NM_001195803.2:c.314-1002_314-999delinsATGGT	NP_001182732.1:n.314-1002_314-999delinsATGGT