Allele Registry

HGVS	Genome Assembly
NC_000021.9:g.31659842_31659843insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATA , CM000683.2:g.31659842_31659843insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATA	GRCh38
NC_000021.8:g.33032155_33032156insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATA , CM000683.1:g.33032155_33032156insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATA	GRCh37
NC_000021.7:g.31954026_31954027insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATA	NCBI36
NG_008689.1:g.5221_5222insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATA , LRG_652:g.5221_5222insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATA

HGVS	Amino-acid Change
ENST00000270142.11:c.72+1_72+2insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATA MANE Select	ENSP00000270142.7:n.72+1_72+2insAAAGTAATGGACCAGTGAAGGTGTGGGGA...
ENST00000270142.10:c.72+1_72+2insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATA	ENSP00000270142.6:n.72+1_72+2insAAAGTAATGGACCAGTGAAGGTGTGGGGA...
ENST00000389995.4:c.15+58_15+59insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATA	ENSP00000374645.4:n.15+58_15+59insAAAGTAATGGACCAGTGAAGGTGTGGG...
ENST00000470944.1:n.134_135insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATA
ENST00000476106.5:n.149+1_149+2insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATA
NM_000454.4:c.72+1_72+2insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATA , LRG_652t1:c.72+1_72+2insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATA	NP_000445.1:n.72+1_72+2insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATT...
NM_000454.5:c.72+1_72+2insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATTAAAGGACTGACTGAAGGCCTGCATGGATTCCATGTTCATGAGTTTGGAGATAATA MANE Select	NP_000445.1:n.72+1_72+2insAAAGTAATGGACCAGTGAAGGTGTGGGGAAGCATT...