Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23573155_23573156insACCCTGAAACGCGCAAAAACAGCATTATTTTCCGCGGAAATCTCGCCCGACTAACCGAGCAGCTTATAGCTGAAGGAAAGACCGCTAAAGCGTCTGAAATCATCGATATAGCTATGAAGAATATGCCGGTA , CM000684.2:g.23573155_23573156insACCCTGAAACGCGCAAAAACAGCATTATTTTCCGCGGAAATCTCGCCCGACTAACCGAGCAGCTTATAGCTGAAGGAAAGACCGCTAAAGCGTCTGAAATCATCGATATAGCTATGAAGAATATGCCGGTA	GRCh38
NC_000022.10:g.23915342_23915343insACCCTGAAACGCGCAAAAACAGCATTATTTTCCGCGGAAATCTCGCCCGACTAACCGAGCAGCTTATAGCTGAAGGAAAGACCGCTAAAGCGTCTGAAATCATCGATATAGCTATGAAGAATATGCCGGTA , CM000684.1:g.23915342_23915343insACCCTGAAACGCGCAAAAACAGCATTATTTTCCGCGGAAATCTCGCCCGACTAACCGAGCAGCTTATAGCTGAAGGAAAGACCGCTAAAGCGTCTGAAATCATCGATATAGCTATGAAGAATATGCCGGTA	GRCh37
NC_000022.9:g.22245342_22245343insACCCTGAAACGCGCAAAAACAGCATTATTTTCCGCGGAAATCTCGCCCGACTAACCGAGCAGCTTATAGCTGAAGGAAAGACCGCTAAAGCGTCTGAAATCATCGATATAGCTATGAAGAATATGCCGGTA	NCBI36
NG_009791.1:g.12153_12154insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT , LRG_69:g.12153_12154insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330377.3:c.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT MANE Select	ENSP00000329312.2:n.110_111insTACCGGCATATTCTTCATAGCTATATCGA...
ENST00000249053.3:c.381_382insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	ENSP00000249053.3:n.381_382insTACCGGCATATTCTTCATAGCTATATCGA...
ENST00000330377.2:c.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	ENSP00000329312.2:n.110_111insTACCGGCATATTCTTCATAGCTATATCGA...
NM_020070.3:c.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	NP_064455.1:n.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTT...
NM_152855.2:c.381_382insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	NP_690594.1:n.381_382insTACCGGCATATTCTTCATAGCTATATCGATGATTT...
XM_011530169.1:c.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	XP_011528471.1:n.110_111insTACCGGCATATTCTTCATAGCTATATCGATGA...
XM_011530169.2:c.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	XP_011528471.1:n.110_111insTACCGGCATATTCTTCATAGCTATATCGATGA...
NM_020070.4:c.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT MANE Select	NP_064455.1:n.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTT...
NM_001369906.1:c.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	NP_001356835.1:n.110_111insTACCGGCATATTCTTCATAGCTATATCGATGA...
NM_152855.3:c.381_382insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	NP_690594.1:n.381_382insTACCGGCATATTCTTCATAGCTATATCGATGATTT...

HGVS	Amino-acid Change
ENST00000330377.3:c.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT MANE Select	ENSP00000329312.2:n.110_111insTACCGGCATATTCTTCATAGCTATATCGA...
ENST00000249053.3:c.381_382insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	ENSP00000249053.3:n.381_382insTACCGGCATATTCTTCATAGCTATATCGA...
ENST00000330377.2:c.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	ENSP00000329312.2:n.110_111insTACCGGCATATTCTTCATAGCTATATCGA...
NM_020070.3:c.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	NP_064455.1:n.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTT...
NM_152855.2:c.381_382insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	NP_690594.1:n.381_382insTACCGGCATATTCTTCATAGCTATATCGATGATTT...
XM_011530169.1:c.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	XP_011528471.1:n.110_111insTACCGGCATATTCTTCATAGCTATATCGATGA...
XM_011530169.2:c.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	XP_011528471.1:n.110_111insTACCGGCATATTCTTCATAGCTATATCGATGA...
NM_020070.4:c.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT MANE Select	NP_064455.1:n.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTT...
NM_001369906.1:c.110_111insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	NP_001356835.1:n.110_111insTACCGGCATATTCTTCATAGCTATATCGATGA...
NM_152855.3:c.381_382insTACCGGCATATTCTTCATAGCTATATCGATGATTTCAGACGCTTTAGCGGTCTTTCCTTCAGCTATAAGCTGCTCGGTTAGTCGGGCGAGATTTCCGCGGAAAATAATGCTGTTTTTGCGCGTTTCAGGGT	NP_690594.1:n.381_382insTACCGGCATATTCTTCATAGCTATATCGATGATTT...