Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565550_38565551insGCGAGGGTGCCG , CM000681.2:g.38565550_38565551insGCGAGGGTGCCG	GRCh38
NC_000019.9:g.39056190_39056191insGCGAGGGTGCCG , CM000681.1:g.39056190_39056191insGCGAGGGTGCCG	GRCh37
NC_000019.8:g.43748030_43748031insGCGAGGGTGCCG	NCBI36
NG_008866.1:g.136851_136852insGCGAGGGTGCCG , LRG_766:g.136851_136852insGCGAGGGTGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.152_153insGCGAGGGTGCCG
ENST00000688602.1:c.1626_1627insGCGAGGGTGCCG
ENST00000689936.1:c.1608_1609insGCGAGGGTGCCG
ENST00000359596.8:c.13216_13217insGCGAGGGTGCCG MANE Select	ENSP00000352608.2:p.Gly4405_Glu4406insGlyGluGlyAla
ENST00000355481.8:c.13201_13202insGCGAGGGTGCCG	ENSP00000347667.3:p.Gly4400_Glu4401insGlyGluGlyAla
ENST00000359596.7:c.13216_13217insGCGAGGGTGCCG	ENSP00000352608.2:p.Gly4405_Glu4406insGlyGluGlyAla
ENST00000360985.7:c.13198_13199insGCGAGGGTGCCG	ENSP00000354254.4:p.Gly4399_Glu4400insGlyGluGlyAla
NM_000540.2:c.13216_13217insGCGAGGGTGCCG , LRG_766t1:c.13216_13217insGCGAGGGTGCCG	NP_000531.2:p.Gly4405_Glu4406insGlyGluGlyAla
NM_001042723.1:c.13201_13202insGCGAGGGTGCCG	NP_001036188.1:p.Gly4400_Glu4401insGlyGluGlyAla
XM_006723317.1:c.13198_13199insGCGAGGGTGCCG	XP_006723380.1:p.Gly4399_Glu4400insGlyGluGlyAla
XM_006723319.1:c.13183_13184insGCGAGGGTGCCG	XP_006723382.1:p.Gly4394_Glu4395insGlyGluGlyAla
XM_011527204.1:c.13213_13214insGCGAGGGTGCCG	XP_011525506.1:p.Gly4404_Glu4405insGlyGluGlyAla
XM_011527205.1:c.13216_13217insGCGAGGGTGCCG	XP_011525507.1:p.Gly4405_Glu4406insGlyGluGlyAla
XM_006723317.2:c.13198_13199insGCGAGGGTGCCG	XP_006723380.1:p.Gly4399_Glu4400insGlyGluGlyAla
XM_006723319.2:c.13183_13184insGCGAGGGTGCCG	XP_006723382.1:p.Gly4394_Glu4395insGlyGluGlyAla
XM_011527205.2:c.13216_13217insGCGAGGGTGCCG	XP_011525507.1:p.Gly4405_Glu4406insGlyGluGlyAla
NM_000540.3:c.13216_13217insGCGAGGGTGCCG MANE Select	NP_000531.2:p.Gly4405_Glu4406insGlyGluGlyAla
NM_001042723.2:c.13201_13202insGCGAGGGTGCCG	NP_001036188.1:p.Gly4400_Glu4401insGlyGluGlyAla