Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617778del , CM000673.2:g.6617778del	GRCh38
NC_000011.9:g.6639009del , CM000673.1:g.6639009del	GRCh37
NC_000011.8:g.6595585del	NCBI36
NG_008653.1:g.6684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.116-2del	ENSP00000507321.1:n.116-2del
ENST00000299427.12:c.230-2del MANE Select	ENSP00000299427.6:n.230-2del
ENST00000428886.7:n.318-2del
ENST00000436873.7:c.34-2del
ENST00000524788.2:n.1240del
ENST00000524903.2:n.1356del
ENST00000528571.6:c.90-2del	ENSP00000434647.1:n.90-2del
ENST00000530040.2:n.259-2del
ENST00000533371.6:c.-500-2del	ENSP00000437066.1:n.-500-2del
ENST00000534644.6:n.231-2del
ENST00000642892.1:c.-447-2del	ENSP00000494165.1:n.-447-2del
ENST00000643439.1:c.90-2del	ENSP00000495849.1:n.90-2del
ENST00000643479.1:n.259-2del
ENST00000643516.1:c.117-2del
ENST00000644151.1:n.1520del
ENST00000644218.1:c.230-2del	ENSP00000493574.1:n.230-2del
ENST00000644683.1:c.230-2del	ENSP00000494085.1:n.230-2del
ENST00000644810.1:c.230-625del	ENSP00000495895.1:n.230-625del
ENST00000644831.1:n.259-2del
ENST00000644933.1:c.-500-2del	ENSP00000496133.1:n.-500-2del
ENST00000645020.1:n.1256del
ENST00000645285.1:c.-500-2del	ENSP00000495058.1:n.-500-2del
ENST00000645331.1:n.252-2del
ENST00000645620.1:c.-442-2del	ENSP00000493657.1:n.-442-2del
ENST00000646777.1:n.259-2del
ENST00000647016.1:n.561del
ENST00000647152.1:c.-500-2del	ENSP00000495893.1:n.-500-2del
ENST00000647209.1:c.*99-2del	ENSP00000495558.1:n.*99-2del
ENST00000647346.1:n.1248del
ENST00000299427.10:c.230-2del	ENSP00000299427.6:n.230-2del
ENST00000428886.6:n.252-2del
ENST00000436873.6:c.230-2del	ENSP00000398136.2:n.230-2del
ENST00000528571.5:c.90-2del	ENSP00000434647.1:n.90-2del
ENST00000528917.1:n.531-2del
ENST00000530040.1:n.342-2del
ENST00000533371.5:c.-500-2del	ENSP00000437066.1:n.-500-2del
ENST00000534644.5:n.215-2del
ENST00000611494.4:c.230-2del	ENSP00000484546.1:n.230-2del
NM_000391.3:c.230-2del	NP_000382.3:n.230-2del
NM_000391.4:c.230-2del MANE Select	NP_000382.3:n.230-2del