Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617222C= , CM000673.2:g.6617222C=	GRCh38
NC_000011.9:g.6638453C= , CM000673.1:g.6638453C=	GRCh37
NC_000011.8:g.6595029C=	NCBI36
NG_008653.1:g.7240G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.395-69G=	ENSP00000507321.1:n.395-69G=
ENST00000299427.12:c.509-69G= MANE Select	ENSP00000299427.6:n.509-69G=
ENST00000428886.7:n.675G=
ENST00000436873.7:c.312+79G=
ENST00000524788.2:n.1599G=
ENST00000524903.2:n.1715G=
ENST00000528571.6:c.*327G=	ENSP00000434647.1:n.*327G=
ENST00000528807.2:n.165-69G=
ENST00000530040.2:n.479+137G=
ENST00000533371.6:c.-221-69G=	ENSP00000437066.1:n.-221-69G=
ENST00000534644.6:n.457-69G=
ENST00000642892.1:c.-221-69G=	ENSP00000494165.1:n.-221-69G=
ENST00000643439.1:c.*249-69G=	ENSP00000495849.1:n.*249-69G=
ENST00000643479.1:n.538-69G=
ENST00000643516.1:c.395+79G=
ENST00000644151.1:n.1879G=
ENST00000644218.1:c.509-69G=	ENSP00000493574.1:n.509-69G=
ENST00000644683.1:c.451-69G=	ENSP00000494085.1:n.451-69G=
ENST00000644810.1:c.230-69G=	ENSP00000495895.1:n.230-69G=
ENST00000644831.1:n.616G=
ENST00000644933.1:c.-221-69G=	ENSP00000496133.1:n.-221-69G=
ENST00000645020.1:n.1615G=
ENST00000645285.1:c.-221-69G=	ENSP00000495058.1:n.-221-69G=
ENST00000645331.1:n.806G=
ENST00000645620.1:c.-221-69G=	ENSP00000493657.1:n.-221-69G=
ENST00000646777.1:n.616G=
ENST00000647016.1:n.920G=
ENST00000647152.1:c.-221-69G=	ENSP00000495893.1:n.-221-69G=
ENST00000647209.1:c.*378-69G=	ENSP00000495558.1:n.*378-69G=
ENST00000647346.1:n.1529-69G=
ENST00000299427.10:c.509-69G=	ENSP00000299427.6:n.509-69G=
ENST00000428886.6:n.609G=
ENST00000436873.6:c.450+137G=	ENSP00000398136.2:n.450+137G=
ENST00000524788.1:n.140G=
ENST00000528571.5:c.*249-69G=	ENSP00000434647.1:n.*249-69G=
ENST00000533371.5:c.-221-69G=	ENSP00000437066.1:n.-221-69G=
ENST00000534644.5:n.494-69G=
ENST00000611494.4:c.509-69G=	ENSP00000484546.1:n.509-69G=
NM_000391.3:c.509-69G=	NP_000382.3:n.509-69G=
NM_000391.4:c.509-69G= MANE Select	NP_000382.3:n.509-69G=