Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68802045_68802046insTACACAGTGCA , CM000678.2:g.68802045_68802046insTACACAGTGCA	GRCh38
NC_000016.9:g.68835948_68835949insTACACAGTGCA , CM000678.1:g.68835948_68835949insTACACAGTGCA	GRCh37
NC_000016.8:g.67393449_67393450insTACACAGTGCA	NCBI36
NG_008021.1:g.69754_69755insTACACAGTGCA , LRG_301:g.69754_69755insTACACAGTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.387+152_387+153insTACACAGTGCA MANE Select	ENSP00000261769.4:n.387+152_387+153insTACACAGTGCA
ENST00000261769.9:c.387+152_387+153insTACACAGTGCA	ENSP00000261769.4:n.387+152_387+153insTACACAGTGCA
ENST00000422392.6:c.387+152_387+153insTACACAGTGCA	ENSP00000414946.2:n.387+152_387+153insTACACAGTGCA
ENST00000561751.1:c.154+152_154+153insTACACAGTGCA
ENST00000562836.5:n.458+152_458+153insTACACAGTGCA
ENST00000564676.5:n.669+152_669+153insTACACAGTGCA
ENST00000564745.1:n.382+152_382+153insTACACAGTGCA
ENST00000566510.5:c.387+152_387+153insTACACAGTGCA	ENSP00000458139.1:n.387+152_387+153insTACACAGTGCA
ENST00000566612.5:c.387+152_387+153insTACACAGTGCA	ENSP00000454782.1:n.387+152_387+153insTACACAGTGCA
ENST00000611625.4:c.387+152_387+153insTACACAGTGCA	ENSP00000481063.1:n.387+152_387+153insTACACAGTGCA
ENST00000612417.4:c.387+152_387+153insTACACAGTGCA	ENSP00000478360.1:n.387+152_387+153insTACACAGTGCA
ENST00000621016.4:c.387+152_387+153insTACACAGTGCA	ENSP00000480664.1:n.387+152_387+153insTACACAGTGCA
NM_004360.3:c.387+152_387+153insTACACAGTGCA , LRG_301t1:c.387+152_387+153insTACACAGTGCA	NP_004351.1:n.387+152_387+153insTACACAGTGCA
XM_011523488.1:c.-349+152_-349+153insTACACAGTGCA	XP_011521790.1:n.-349+152_-349+153insTACACAGTGCA
XM_011523489.1:c.-349+152_-349+153insTACACAGTGCA	XP_011521791.1:n.-349+152_-349+153insTACACAGTGCA
NM_001317184.1:c.387+152_387+153insTACACAGTGCA	NP_001304113.1:n.387+152_387+153insTACACAGTGCA
NM_001317185.1:c.-1229+152_-1229+153insTACACAGTGCA	NP_001304114.1:n.-1229+152_-1229+153insTACACAGTGCA
NM_001317186.1:c.-1433+152_-1433+153insTACACAGTGCA	NP_001304115.1:n.-1433+152_-1433+153insTACACAGTGCA
NM_004360.4:c.387+152_387+153insTACACAGTGCA	NP_004351.1:n.387+152_387+153insTACACAGTGCA
NM_004360.5:c.387+152_387+153insTACACAGTGCA MANE Select	NP_004351.1:n.387+152_387+153insTACACAGTGCA
NM_001317184.2:c.387+152_387+153insTACACAGTGCA	NP_001304113.1:n.387+152_387+153insTACACAGTGCA
NM_001317185.2:c.-1229+152_-1229+153insTACACAGTGCA	NP_001304114.1:n.-1229+152_-1229+153insTACACAGTGCA
NM_001317186.2:c.-1433+152_-1433+153insTACACAGTGCA	NP_001304115.1:n.-1433+152_-1433+153insTACACAGTGCA