Allele Registry

HGVS	Genome Assembly
NC_000020.11:g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT , CM000682.2:g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT	GRCh38
NC_000020.10:g.56137884_56137885insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT , CM000682.1:g.56137884_56137885insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT	GRCh37
NC_000020.9:g.55571290_55571291insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT	NCBI36
NG_008205.1:g.6748_6749insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT

HGVS	Amino-acid Change
ENST00000319441.6:c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT MANE Select	ENSP00000319814.4:p.Val180_Leu181insTrpAspValLeuGlyThrAspGlyA...
ENST00000319441.5:c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT	ENSP00000319814.4:p.Val180_Leu181insTrpAspValLeuGlyThrAspGlyA...
ENST00000467047.1:n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT
ENST00000498194.1:n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT
NM_002591.3:c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT	NP_002582.3:p.Val180_Leu181insTrpAspValLeuGlyThrAspGlyAlaPheV...
XM_011528839.1:c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT	XP_011527141.1:p.Val48_Leu49insTrpAspValLeuGlyThrAspGlyAlaPhe...
XM_024451888.1:c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT	XP_024307656.1:p.Val48_Leu49insTrpAspValLeuGlyThrAspGlyAlaPhe...
NM_002591.4:c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGT MANE Select	NP_002582.3:p.Val180_Leu181insTrpAspValLeuGlyThrAspGlyAlaPheV...