Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68799083_68799084insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC , CM000678.2:g.68799083_68799084insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	GRCh38
NC_000016.9:g.68832986_68832987insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC , CM000678.1:g.68832986_68832987insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	GRCh37
NC_000016.8:g.67390487_67390488insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	NCBI36
NG_008021.1:g.66792_66793insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC , LRG_301:g.66792_66793insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC MANE Select	ENSP00000261769.4:n.164-2587_164-2586insCCTTTTGCAATTTCGTATCAC...
ENST00000261769.9:c.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	ENSP00000261769.4:n.164-2587_164-2586insCCTTTTGCAATTTCGTATCAC...
ENST00000422392.6:c.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	ENSP00000414946.2:n.164-2587_164-2586insCCTTTTGCAATTTCGTATCAC...
ENST00000562836.5:n.235-2587_235-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC
ENST00000564676.5:n.446-2587_446-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC
ENST00000564745.1:n.159-2587_159-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC
ENST00000566510.5:c.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	ENSP00000458139.1:n.164-2587_164-2586insCCTTTTGCAATTTCGTATCAC...
ENST00000566612.5:c.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	ENSP00000454782.1:n.164-2587_164-2586insCCTTTTGCAATTTCGTATCAC...
ENST00000611625.4:c.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	ENSP00000481063.1:n.164-2587_164-2586insCCTTTTGCAATTTCGTATCAC...
ENST00000612417.4:c.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	ENSP00000478360.1:n.164-2587_164-2586insCCTTTTGCAATTTCGTATCAC...
ENST00000621016.4:c.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	ENSP00000480664.1:n.164-2587_164-2586insCCTTTTGCAATTTCGTATCAC...
NM_004360.3:c.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC , LRG_301t1:c.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	NP_004351.1:n.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACA...
XM_011523488.1:c.-572-2587_-572-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	XP_011521790.1:n.-572-2587_-572-2586insCCTTTTGCAATTTCGTATCACT...
XM_011523489.1:c.-572-2587_-572-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	XP_011521791.1:n.-572-2587_-572-2586insCCTTTTGCAATTTCGTATCACT...
NM_001317184.1:c.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	NP_001304113.1:n.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCT...
NM_001317185.1:c.-1452-2587_-1452-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	NP_001304114.1:n.-1452-2587_-1452-2586insCCTTTTGCAATTTCGTATCA...
NM_001317186.1:c.-1656-2587_-1656-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	NP_001304115.1:n.-1656-2587_-1656-2586insCCTTTTGCAATTTCGTATCA...
NM_004360.4:c.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	NP_004351.1:n.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACA...
NM_004360.5:c.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC MANE Select	NP_004351.1:n.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACA...
NM_001317184.2:c.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	NP_001304113.1:n.164-2587_164-2586insCCTTTTGCAATTTCGTATCACTCT...
NM_001317185.2:c.-1452-2587_-1452-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	NP_001304114.1:n.-1452-2587_-1452-2586insCCTTTTGCAATTTCGTATCA...
NM_001317186.2:c.-1656-2587_-1656-2586insCCTTTTGCAATTTCGTATCACTCTACACGTTAAATTAACGAATCGATGAAGCGAATAGTCCGCATTGTGTTGGCGTGAAGCCGCTTGATGTGGCCGTGCGAGTAGCCTAGCTCCTCCGCAATCGACTC	NP_001304115.1:n.-1656-2587_-1656-2586insCCTTTTGCAATTTCGTATCA...