Allele Registry

HGVS	Genome Assembly
NC_000019.10:g.1401316_1401341delinsGCCAGCGCGTGCATATAGGGGGTCTC , CM000681.2:g.1401316_1401341delinsGCCAGCGCGTGCATATAGGGGGTCTC	GRCh38
NC_000019.9:g.1401315_1401340delinsGCCAGCGCGTGCATATAGGGGGTCTC , CM000681.1:g.1401315_1401340delinsGCCAGCGCGTGCATATAGGGGGTCTC	GRCh37
NC_000019.8:g.1352315_1352340delinsGCCAGCGCGTGCATATAGGGGGTCTC	NCBI36
NG_009785.1:g.5213_5238delinsGAGACCCCCTATATGCACGCGCTGGC

HGVS	Amino-acid Change
ENST00000252288.8:c.136_161delinsGAGACCCCCTATATGCACGCGCTGGC MANE Select	ENSP00000252288.1:p.Glu46=
ENST00000447102.8:c.136_161delinsGAGACCCCCTATATGCACGCGCTGGC	ENSP00000403536.2:p.Glu46=
ENST00000640762.1:c.112+24_112+49delinsGAGACCCCCTATATGCACGCGCTGGC	ENSP00000492031.1:n.112+24_112+49delinsGAGACCCCCTATATGCACGCGC...
ENST00000252288.6:c.136_161delinsGAGACCCCCTATATGCACGCGCTGGC	ENSP00000252288.1:p.Glu46=
ENST00000447102.7:c.136_161delinsGAGACCCCCTATATGCACGCGCTGGC	ENSP00000403536.2:p.Glu46=
NM_000156.5:c.136_161delinsGAGACCCCCTATATGCACGCGCTGGC	NP_000147.1:p.Glu46=
NM_138924.2:c.136_161delinsGAGACCCCCTATATGCACGCGCTGGC	NP_620279.1:p.Glu46=
NM_000156.6:c.136_161delinsGAGACCCCCTATATGCACGCGCTGGC MANE Select	NP_000147.1:p.Glu46=
NM_138924.3:c.136_161delinsGAGACCCCCTATATGCACGCGCTGGC	NP_620279.1:p.Glu46=