Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51806808_51806819del , CM000674.2:g.51806808_51806819del	GRCh38
NC_000012.11:g.52200592_52200603del , CM000674.1:g.52200592_52200603del	GRCh37
NC_000012.10:g.50486859_50486870del	NCBI36
NG_021180.2:g.220573_220584del
NG_021180.3:g.221851_221862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.5322_5333del MANE Plus Clinical	ENSP00000346534.4:p.Glu1774_Ala1777del
ENST00000627620.5:c.5322_5333del MANE Select	ENSP00000487583.2:p.Glu1774_Ala1777del
ENST00000636945.2:c.3386_3397del
ENST00000662684.1:c.5322_5333del	ENSP00000499636.1:p.Glu1774_Ala1777del
ENST00000668547.1:c.5199_5210del	ENSP00000499691.1:p.Glu1733_Ala1736del
ENST00000354534.10:c.5322_5333del	ENSP00000346534.4:p.Glu1774_Ala1777del
ENST00000355133.7:c.5199_5210del	ENSP00000347255.4:p.Glu1733_Ala1736del
ENST00000545061.5:c.5199_5210del	ENSP00000440360.1:p.Glu1733_Ala1736del
ENST00000599343.5:c.5355_5366del	ENSP00000476447.3:p.Glu1785_Ala1788del
ENST00000627620.2:c.5322_5333del	ENSP00000487583.1:p.Glu1774_Ala1777del
NM_001177984.2:c.5199_5210del	NP_001171455.1:p.Glu1733_Ala1736del
NM_014191.3:c.5322_5333del	NP_055006.1:p.Glu1774_Ala1777del
XM_006719556.2:c.5322_5333del	XP_006719619.1:p.Glu1774_Ala1777del
XM_011538650.1:c.5322_5333del	XP_011536952.1:p.Glu1774_Ala1777del
XM_011538651.1:c.5322_5333del	XP_011536953.1:p.Glu1774_Ala1777del
NM_001330260.1:c.5322_5333del	NP_001317189.1:p.Glu1774_Ala1777del
XM_006719556.4:c.5322_5333del	XP_006719619.1:p.Glu1774_Ala1777del
XM_011538651.3:c.5322_5333del	XP_011536953.1:p.Glu1774_Ala1777del
XM_017019794.2:c.5322_5333del	XP_016875283.1:p.Glu1774_Ala1777del
XM_017019795.2:c.5199_5210del	XP_016875284.1:p.Glu1733_Ala1736del
NM_001330260.2:c.5322_5333del MANE Select	NP_001317189.1:p.Glu1774_Ala1777del
NM_001369788.1:c.5199_5210del	NP_001356717.1:p.Glu1733_Ala1736del
NM_014191.4:c.5322_5333del MANE Plus Clinical	NP_055006.1:p.Glu1774_Ala1777del
NM_001177984.3:c.5199_5210del	NP_001171455.1:p.Glu1733_Ala1736del