Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284712del , CM000665.2:g.123284712del	GRCh38
NC_000003.11:g.123003559del , CM000665.1:g.123003559del	GRCh37
NC_000003.10:g.124486249del	NCBI36
NG_033882.1:g.168834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2359del	ENSP00000420082.2:p.Leu787TrpfsTer22
ENST00000470367.2:c.2647del	ENSP00000514541.1:p.Leu883TrpfsTer22
ENST00000483566.2:c.2359del	ENSP00000420252.2:p.Leu787TrpfsTer22
ENST00000699714.1:c.2359del	ENSP00000514539.1:p.Leu787TrpfsTer22
ENST00000699715.1:c.2359del	ENSP00000514540.1:p.Leu787TrpfsTer22
ENST00000699716.1:c.2359del	ENSP00000514542.1:p.Leu787TrpfsTer22
ENST00000699717.1:n.2085del
ENST00000699718.1:c.3757del	ENSP00000514543.1:p.Leu1253TrpfsTer22
ENST00000462833.6:c.3682del MANE Select	ENSP00000419361.1:p.Leu1228TrpfsTer22
ENST00000309879.9:c.2632del	ENSP00000308685.5:p.Leu878TrpfsTer22
ENST00000462833.5:c.3682del	ENSP00000419361.1:p.Leu1228TrpfsTer22
ENST00000478092.1:n.452del
ENST00000491190.5:c.2656del	ENSP00000418537.1:p.Leu886TrpfsTer22
NM_001199642.1:c.2632del	NP_001186571.1:p.Leu878TrpfsTer22
NM_183357.2:c.3682del	NP_899200.1:p.Leu1228TrpfsTer22
XM_005247077.2:c.3757del	XP_005247134.1:p.Leu1253TrpfsTer22
XM_005247078.1:c.2707del	XP_005247135.1:p.Leu903TrpfsTer22
XM_006713483.1:c.2656del	XP_006713546.1:p.Leu886TrpfsTer22
XM_006713484.1:c.2434del	XP_006713547.1:p.Leu812TrpfsTer22
XM_011512359.1:c.2758del	XP_011510661.1:p.Leu920TrpfsTer22
XM_011512360.1:c.2668del	XP_011510662.1:p.Leu890TrpfsTer22
XM_011512361.1:c.2434del	XP_011510663.1:p.Leu812TrpfsTer22
XM_005247077.4:c.3757del	XP_005247134.1:p.Leu1253TrpfsTer22
XM_011512359.2:c.2758del	XP_011510661.1:p.Leu920TrpfsTer22
XM_011512360.3:c.2668del	XP_011510662.1:p.Leu890TrpfsTer22
XM_017005638.1:c.2659del	XP_016861127.1:p.Leu887TrpfsTer22
XM_017005639.1:c.2659del	XP_016861128.1:p.Leu887TrpfsTer22
NM_001378259.1:c.3757del	NP_001365188.1:p.Leu1253TrpfsTer22
NM_183357.3:c.3682del MANE Select	NP_899200.1:p.Leu1228TrpfsTer22