Allele Registry

HGVS	Genome Assembly
NC_000009.12:g.133256050_133256085delinsTGGAGTCAGGATCTCCACGCCCACGTGGTCGCGGAT , CM000671.2:g.133256050_133256085delinsTGGAGTCAGGATCTCCACGCCCACGTGGTCGCGGAT	GRCh38
NC_000009.11:g.136131437_136131472delinsTGGAGTCAGGATCTCCACGCCCACGTGGTCGCGGAT , CM000671.1:g.136131437_136131472delinsTGGAGTCAGGATCTCCACGCCCACGTGGTCGCGGAT	GRCh37
NC_000009.10:g.135121258_135121293delinsTGGAGTCAGGATCTCCACGCCCACGTGGTCGCGGAT	NCBI36
NG_006669.1:g.21583_21618delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA
NG_006669.2:g.24131_24166delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA

HGVS	Amino-acid change
ENST00000453660.4:n.675_710delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA
ENST00000647353.1:n.54-4933_54-4898delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA
ENST00000679909.1:c.28+19077_28+19112delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA	ENSP00000506089.1:n.28+19077_28+19112deli...
ENST00000453660.3:n.657_692delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA
ENST00000538324.2:c.643_678delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA	ENSP00000483018.1:p.Phe215Ile
ENST00000611156.4:c.643_678delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA	ENSP00000483265.1:p.Phe215Ile
NM_020469.2:c.646_681delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA	NP_065202.2:p.Phe216Ile
NM_020469.3:c.646_681delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA	NP_065202.2:p.Phe216Ile