Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105221_11105234delinsCCCCAAGACGTGCT , CM000681.2:g.11105221_11105234delinsCCCCAAGACGTGCT	GRCh38
NC_000019.9:g.11215897_11215910delinsCCCCAAGACGTGCT , CM000681.1:g.11215897_11215910delinsCCCCAAGACGTGCT	GRCh37
NC_000019.8:g.11076897_11076910delinsCCCCAAGACGTGCT	NCBI36
NG_009060.1:g.20841_20854delinsCCCCAAGACGTGCT , LRG_274:g.20841_20854delinsCCCCAAGACGTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.573_586delinsCCCCAAGACGTGCT	ENSP00000252444.6:p.Pro191=
ENST00000559340.2:c.315_328delinsCCCCAAGACGTGCT	ENSP00000453696.2:p.Pro105=
ENST00000560467.2:c.315_328delinsCCCCAAGACGTGCT	ENSP00000453513.2:p.Pro105=
ENST00000558518.6:c.315_328delinsCCCCAAGACGTGCT MANE Select	ENSP00000454071.1:p.Pro105=
ENST00000252444.9:c.569_582delinsCCCCAAGACGTGCT
ENST00000455727.6:c.314-2171_314-2158delinsCCCCAAGACGTGCT	ENSP00000397829.2:n.314-2171_314-2158delinsCCCCAAGACGTGCT
ENST00000535915.5:c.192_205delinsCCCCAAGACGTGCT	ENSP00000440520.1:p.Ser64=
ENST00000545707.5:c.314-1344_314-1331delinsCCCCAAGACGTGCT	ENSP00000437639.1:n.314-1344_314-1331delinsCCCCAAGACGTGCT
ENST00000557933.5:c.315_328delinsCCCCAAGACGTGCT	ENSP00000453557.1:p.Pro105=
ENST00000558013.5:c.315_328delinsCCCCAAGACGTGCT	ENSP00000453346.1:p.Pro105=
ENST00000558518.5:c.315_328delinsCCCCAAGACGTGCT	ENSP00000454071.1:p.Pro105=
NM_000527.4:c.315_328delinsCCCCAAGACGTGCT , LRG_274t1:c.315_328delinsCCCCAAGACGTGCT	NP_000518.1:p.Pro105=
NM_001195798.1:c.315_328delinsCCCCAAGACGTGCT	NP_001182727.1:p.Pro105=
NM_001195799.1:c.192_205delinsCCCCAAGACGTGCT	NP_001182728.1:p.Ser64=
NM_001195800.1:c.314-2171_314-2158delinsCCCCAAGACGTGCT	NP_001182729.1:n.314-2171_314-2158delinsCCCCAAGACGTGCT
NM_001195803.1:c.314-1344_314-1331delinsCCCCAAGACGTGCT	NP_001182732.1:n.314-1344_314-1331delinsCCCCAAGACGTGCT
XM_011528010.1:c.315_328delinsCCCCAAGACGTGCT	XP_011526312.1:p.Pro105=
XM_011528011.1:c.314-1344_314-1331delinsCCCCAAGACGTGCT	XP_011526313.1:n.314-1344_314-1331delinsCCCCAAGACGTGCT
XR_244074.2:n.465_478delinsCCCCAAGACGTGCT
XM_011528010.2:c.315_328delinsCCCCAAGACGTGCT	XP_011526312.1:p.Pro105=
XR_001753685.2:n.432_445delinsCCCCAAGACGTGCT
XR_001753686.2:n.432_445delinsCCCCAAGACGTGCT
NM_000527.5:c.315_328delinsCCCCAAGACGTGCT MANE Select	NP_000518.1:p.Pro105=
NM_001195798.2:c.315_328delinsCCCCAAGACGTGCT	NP_001182727.1:p.Pro105=
NM_001195799.2:c.192_205delinsCCCCAAGACGTGCT	NP_001182728.1:p.Ser64=
NM_001195800.2:c.314-2171_314-2158delinsCCCCAAGACGTGCT	NP_001182729.1:n.314-2171_314-2158delinsCCCCAAGACGTGCT
NM_001195803.2:c.314-1344_314-1331delinsCCCCAAGACGTGCT	NP_001182732.1:n.314-1344_314-1331delinsCCCCAAGACGTGCT