Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174774_55174788delinsTGG , CM000669.2:g.55174774_55174788delinsTGG	GRCh38
NC_000007.13:g.55242467_55242481delinsTGG , CM000669.1:g.55242467_55242481delinsTGG	GRCh37
NC_000007.12:g.55209961_55209975delinsTGG	NCBI36
NG_007726.3:g.160743_160757delinsTGG , LRG_304:g.160743_160757delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
NM_005228.5:c.2237_2251delinsTGG MANE Select	NP_005219.2:p.Glu746_Thr751delinsValAla
ENST00000275493.7:c.2237_2251delinsTGG MANE Select	ENSP00000275493.2:p.Glu746_Thr751delinsValAla
NM_001346897.1:c.2102_2116delinsTGG	NP_001333826.1:p.Glu701_Thr706delinsValAla
NM_001346897.2:c.2102_2116delinsTGG	NP_001333826.1:p.Glu701_Thr706delinsValAla
NM_001346898.1:c.2237_2251delinsTGG	NP_001333827.1:p.Glu746_Thr751delinsValAla
NM_001346898.2:c.2237_2251delinsTGG	NP_001333827.1:p.Glu746_Thr751delinsValAla
NM_001346899.1:c.2102_2116delinsTGG	NP_001333828.1:p.Glu701_Thr706delinsValAla
NM_001346899.2:c.2102_2116delinsTGG	NP_001333828.1:p.Glu701_Thr706delinsValAla
NM_001346900.1:c.2078_2092delinsTGG	NP_001333829.1:p.Glu693_Thr698delinsValAla
NM_001346900.2:c.2078_2092delinsTGG	NP_001333829.1:p.Glu693_Thr698delinsValAla
NM_001346941.1:c.1436_1450delinsTGG	NP_001333870.1:p.Glu479_Thr484delinsValAla
NM_001346941.2:c.1436_1450delinsTGG	NP_001333870.1:p.Glu479_Thr484delinsValAla
NM_005228.3:c.2237_2251delinsTGG , LRG_304t1:c.2237_2251delinsTGG	NP_005219.2:p.Glu746_Thr751delinsValAla
NM_005228.4:c.2237_2251delinsTGG	NP_005219.2:p.Glu746_Thr751delinsValAla
ENST00000275493.6:c.2237_2251delinsTGG	ENSP00000275493.2:p.Glu746_Thr751delinsValAla
ENST00000442591.5:c.28+1846_28+1860delinsTGG	ENSP00000410031.1:n.28+1846_28+1860delinsTGG
ENST00000450046.2:c.2078_2092delinsTGG	ENSP00000413354.2:p.Glu693_Thr698delinsValAla
ENST00000454757.6:c.2102_2116delinsTGG	ENSP00000395243.3:p.Glu701_Thr706delinsValAla
ENST00000455089.5:c.2102_2116delinsTGG	ENSP00000415559.1:p.Glu701_Thr706delinsValAla
ENST00000700145.1:c.586_600delinsTGG