Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71119391_71119407delinsTA , CM000685.2:g.71119391_71119407delinsTA	GRCh38
NC_000023.10:g.70339241_70339257delinsTA , CM000685.1:g.70339241_70339257delinsTA	GRCh37
NC_000023.9:g.70255966_70255982delinsTA	NCBI36
NG_012808.1:g.5836_5852delinsTA

Transcript Alleles

HGVS	Amino-acid Change
NM_005120.3:c.118_134delinsTA MANE Select	NP_005111.2:p.Asn40_Phe45delinsTyr
ENST00000374080.8:c.118_134delinsTA MANE Select	ENSP00000363193.3:p.Asn40_Phe45delinsTyr
NM_005120.2:c.118_134delinsTA	NP_005111.2:p.Asn40_Phe45delinsTyr
ENST00000333646.10:c.-342_-326delinsTA	ENSP00000333125.7:n.-342_-326delinsTA
ENST00000333646.11:c.118_134delinsTA	ENSP00000333125.8:p.Asn40_Phe45delinsTyr
ENST00000374080.7:c.118_134delinsTA	ENSP00000363193.3:p.Asn40_Phe45delinsTyr
ENST00000374102.5:c.118_134delinsTA	ENSP00000363215.1:p.Asn40_Phe45delinsTyr
ENST00000374102.6:c.118_134delinsTA	ENSP00000363215.2:p.Asn40_Phe45delinsTyr
ENST00000429213.2:c.72_88delinsTA
ENST00000429213.3:c.118_134delinsTA	ENSP00000399084.2:p.Asn40_Phe45delinsTyr
ENST00000686548.1:c.14_30delinsTA	ENSP00000509582.1:n.14_30delinsTA
ENST00000687382.1:c.118_134delinsTA	ENSP00000510724.1:p.Asn40_Phe45delinsTyr
ENST00000688663.1:c.118_134delinsTA	ENSP00000509348.1:p.Asn40_Phe45delinsTyr
ENST00000688718.1:n.54_70delinsTA
ENST00000689008.1:c.14_30delinsTA	ENSP00000509134.1:n.14_30delinsTA
ENST00000690145.1:c.118_134delinsTA	ENSP00000508818.1:p.Asn40_Phe45delinsTyr
ENST00000690242.1:c.118_134delinsTA	ENSP00000510090.1:p.Asn40_Phe45delinsTyr
ENST00000690828.1:n.274_290delinsTA
ENST00000691468.1:c.118_134delinsTA	ENSP00000509011.1:p.Asn40_Phe45delinsTyr
ENST00000692304.1:c.118_134delinsTA	ENSP00000508427.1:p.Asn40_Phe45delinsTyr
ENST00000692864.1:c.14_30delinsTA	ENSP00000510321.1:n.14_30delinsTA
ENST00000693324.1:c.118_134delinsTA	ENSP00000508643.1:p.Asn40_Phe45delinsTyr
XM_005262317.1:c.118_134delinsTA	XP_005262374.1:p.Asn40_Phe45delinsTyr
XM_005262319.1:c.118_134delinsTA	XP_005262376.1:p.Asn40_Phe45delinsTyr