Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39357260del , CM000668.2:g.39357260del	GRCh38
NC_000006.11:g.39325036del , CM000668.1:g.39325036del	GRCh37
NC_000006.10:g.39433014del	NCBI36
NG_054928.1:g.373166del

Transcript Alleles

HGVS	Amino-acid change
ENST00000287152.12:c.2180+18del MANE Select	ENSP00000287152.7:n.2180+18del
ENST00000229913.9:c.533+18del	ENSP00000229913.5:n.533+18del
ENST00000287152.11:c.2180+18del	ENSP00000287152.7:n.2180+18del
ENST00000394362.5:c.533+18del	ENSP00000377889.1:n.533+18del
ENST00000458470.5:c.1855+18del
ENST00000538893.5:c.533+18del	ENSP00000441435.2:n.533+18del
NM_001289020.1:c.2129+18del	NP_001275949.1:n.2129+18del
NM_001289021.1:c.2012+18del	NP_001275950.1:n.2012+18del
NM_001289024.1:c.533+18del	NP_001275953.1:n.533+18del
NM_145027.4:c.2180+18del	NP_659464.3:n.2180+18del
XM_005248904.3:c.2180+18del	XP_005248961.1:n.2180+18del
XM_011514357.1:c.2180+18del	XP_011512659.1:n.2180+18del
XM_011514358.1:c.2180+18del	XP_011512660.1:n.2180+18del
XM_011514359.1:c.2180+18del	XP_011512661.1:n.2180+18del
XM_011514360.1:c.1553+18del	XP_011512662.1:n.1553+18del
NM_001289020.2:c.2129+18del	NP_001275949.1:n.2129+18del
NM_001289021.2:c.2012+18del	NP_001275950.1:n.2012+18del
NM_001289024.2:c.533+18del	NP_001275953.1:n.533+18del
NM_001351566.1:c.533+18del	NP_001338495.1:n.533+18del
NM_145027.5:c.2180+18del	NP_659464.3:n.2180+18del
XM_005248904.4:c.2180+18del	XP_005248961.1:n.2180+18del
XM_011514357.3:c.2180+18del	XP_011512659.1:n.2180+18del
XM_011514358.3:c.2180+18del	XP_011512660.1:n.2180+18del
XM_011514359.3:c.2180+18del	XP_011512661.1:n.2180+18del
XM_017010427.1:c.1871+18del	XP_016865916.1:n.1871+18del
XM_017010428.1:c.1535+18del	XP_016865917.1:n.1535+18del
XR_001744111.1:n.75+5312del
NM_145027.6:c.2180+18del MANE Select	NP_659464.3:n.2180+18del
NM_001289020.3:c.2129+18del	NP_001275949.1:n.2129+18del
NM_001289021.3:c.2012+18del	NP_001275950.1:n.2012+18del
NM_001289024.3:c.533+18del	NP_001275953.1:n.533+18del
NM_001351566.2:c.533+18del	NP_001338495.1:n.533+18del