Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174771_55174785delinsAGGAATTAAGAGAAG , CM000669.2:g.55174771_55174785delinsAGGAATTAAGAGAAG	GRCh38
NC_000007.13:g.55242464_55242478delinsAGGAATTAAGAGAAG , CM000669.1:g.55242464_55242478delinsAGGAATTAAGAGAAG	GRCh37
NC_000007.12:g.55209958_55209972delinsAGGAATTAAGAGAAG	NCBI36
NG_007726.3:g.160740_160754delinsAGGAATTAAGAGAAG , LRG_304:g.160740_160754delinsAGGAATTAAGAGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2075_2089delinsAGGAATTAAGAGAAG	ENSP00000413354.2:p.Lys692=
ENST00000700145.1:c.583_597delinsAGGAATTAAGAGAAG
ENST00000275493.7:c.2234_2248delinsAGGAATTAAGAGAAG MANE Select	ENSP00000275493.2:p.Lys745=
ENST00000275493.6:c.2234_2248delinsAGGAATTAAGAGAAG	ENSP00000275493.2:p.Lys745=
ENST00000442591.5:c.28+1843_28+1857delinsAGGAATTAAGAGAAG	ENSP00000410031.1:n.28+1843_28+1857delinsAGGAATTAAGAGAAG
ENST00000454757.6:c.2099_2113delinsAGGAATTAAGAGAAG	ENSP00000395243.3:p.Lys700=
ENST00000455089.5:c.2099_2113delinsAGGAATTAAGAGAAG	ENSP00000415559.1:p.Lys700=
NM_005228.3:c.2234_2248delinsAGGAATTAAGAGAAG , LRG_304t1:c.2234_2248delinsAGGAATTAAGAGAAG	NP_005219.2:p.Lys745=
NM_001346897.1:c.2099_2113delinsAGGAATTAAGAGAAG	NP_001333826.1:p.Lys700=
NM_001346898.1:c.2234_2248delinsAGGAATTAAGAGAAG	NP_001333827.1:p.Lys745=
NM_001346899.1:c.2099_2113delinsAGGAATTAAGAGAAG	NP_001333828.1:p.Lys700=
NM_001346900.1:c.2075_2089delinsAGGAATTAAGAGAAG	NP_001333829.1:p.Lys692=
NM_001346941.1:c.1433_1447delinsAGGAATTAAGAGAAG	NP_001333870.1:p.Lys478=
NM_005228.4:c.2234_2248delinsAGGAATTAAGAGAAG	NP_005219.2:p.Lys745=
NM_005228.5:c.2234_2248delinsAGGAATTAAGAGAAG MANE Select	NP_005219.2:p.Lys745=
NM_001346897.2:c.2099_2113delinsAGGAATTAAGAGAAG	NP_001333826.1:p.Lys700=
NM_001346898.2:c.2234_2248delinsAGGAATTAAGAGAAG	NP_001333827.1:p.Lys745=
NM_001346900.2:c.2075_2089delinsAGGAATTAAGAGAAG	NP_001333829.1:p.Lys692=
NM_001346941.2:c.1433_1447delinsAGGAATTAAGAGAAG	NP_001333870.1:p.Lys478=
NM_001346899.2:c.2099_2113delinsAGGAATTAAGAGAAG	NP_001333828.1:p.Lys700=