Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66436612_66436613insCC , CM000677.2:g.66436612_66436613insCC	GRCh38
NC_000015.9:g.66728950_66728951insCC , CM000677.1:g.66728950_66728951insCC	GRCh37
NC_000015.8:g.64516004_64516005insCC	NCBI36
NG_008305.1:g.54740_54741insCC , LRG_725:g.54740_54741insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.226-134_226-133insCC	ENSP00000508681.1:n.226-134_226-133insCC
ENST00000685172.1:c.292-134_292-133insCC	ENSP00000509604.1:n.292-134_292-133insCC
ENST00000685763.1:c.291+1375_291+1376insCC	ENSP00000509016.1:n.291+1375_291+1376insCC
ENST00000686347.1:c.292-134_292-133insCC	ENSP00000509027.1:n.292-134_292-133insCC
ENST00000687191.1:n.728-134_728-133insCC
ENST00000689951.1:c.292-134_292-133insCC	ENSP00000509308.1:n.292-134_292-133insCC
ENST00000691077.1:c.292-134_292-133insCC	ENSP00000509843.1:n.292-134_292-133insCC
ENST00000691576.1:c.292-134_292-133insCC	ENSP00000510066.1:n.292-134_292-133insCC
ENST00000691937.1:c.292-134_292-133insCC	ENSP00000508768.1:n.292-134_292-133insCC
ENST00000692487.1:c.292-134_292-133insCC	ENSP00000509534.1:n.292-134_292-133insCC
ENST00000692683.1:c.226-134_226-133insCC	ENSP00000508437.1:n.226-134_226-133insCC
ENST00000693150.1:c.226-134_226-133insCC	ENSP00000510309.1:n.226-134_226-133insCC
ENST00000307102.10:c.292-134_292-133insCC MANE Select	ENSP00000302486.5:n.292-134_292-133insCC
ENST00000307102.9:c.292-134_292-133insCC	ENSP00000302486.4:n.292-134_292-133insCC
ENST00000425818.2:n.803-134_803-133insCC
NM_002755.3:c.292-134_292-133insCC , LRG_725t1:c.292-134_292-133insCC	NP_002746.1:n.292-134_292-133insCC
XM_011521783.1:c.226-134_226-133insCC	XP_011520085.1:n.226-134_226-133insCC
XM_011521783.3:c.226-134_226-133insCC	XP_011520085.1:n.226-134_226-133insCC
XM_017022411.2:c.292-134_292-133insCC	XP_016877900.1:n.292-134_292-133insCC
XM_017022412.1:c.226-134_226-133insCC	XP_016877901.1:n.226-134_226-133insCC
NM_002755.4:c.292-134_292-133insCC MANE Select	NP_002746.1:n.292-134_292-133insCC