Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033267_68033268insGGTCTGCCCGGCCATGGC , CM000673.2:g.68033267_68033268insGGTCTGCCCGGCCATGGC	GRCh38
NC_000011.9:g.67800734_67800735insGGTCTGCCCGGCCATGGC , CM000673.1:g.67800734_67800735insGGTCTGCCCGGCCATGGC	GRCh37
NC_000011.8:g.67557310_67557311insGGTCTGCCCGGCCATGGC	NCBI36
NG_017040.1:g.7651_7652insGGTCTGCCCGGCCATGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.356_357insGGTCTGCCCGGCCATGGC MANE Select	ENSP00000315774.5:p.Ala119_Ile120insValCysProAlaMetAla
ENST00000313468.9:c.356_357insGGTCTGCCCGGCCATGGC	ENSP00000315774.5:p.Ala119_Ile120insValCysProAlaMetAla
ENST00000432321.6:n.473_474insGGTCTGCCCGGCCATGGC
ENST00000453471.6:c.356_357insGGTCTGCCCGGCCATGGC	ENSP00000403972.2:p.Ala119_Ile120insValCysProAlaMetAla
ENST00000524810.5:c.127_128insGGTCTGCCCGGCCATGGC
ENST00000525419.5:c.302_303insGGTCTGCCCGGCCATGGC	ENSP00000433521.1:p.Ala101_Ile102insValCysProAlaMetAla
ENST00000526339.5:c.356_357insGGTCTGCCCGGCCATGGC	ENSP00000436287.1:p.Ala119_Ile120insValCysProAlaMetAla
ENST00000526446.5:c.411_412insGGTCTGCCCGGCCATGGC	ENSP00000433645.1:n.411_412insGGTCTGCCCGGCCATGGC
ENST00000528492.1:c.-67+2534_-67+2535insGGTCTGCCCGGCCATGGC	ENSP00000432848.1:n.-67+2534_-67+2535insGGTCTGCCCGGCCATGGC
ENST00000529645.1:c.534_535insGGTCTGCCCGGCCATGGC	ENSP00000431293.1:n.534_535insGGTCTGCCCGGCCATGGC
ENST00000532399.1:n.1061_1062insGGTCTGCCCGGCCATGGC
NM_002496.3:c.356_357insGGTCTGCCCGGCCATGGC	NP_002487.1:p.Ala119_Ile120insValCysProAlaMetAla
XM_005274013.1:c.356_357insGGTCTGCCCGGCCATGGC	XP_005274070.1:p.Ala119_Ile120insValCysProAlaMetAla
XM_005274014.1:c.356_357insGGTCTGCCCGGCCATGGC	XP_005274071.1:p.Ala119_Ile120insValCysProAlaMetAla
XM_005274015.1:c.236_237insGGTCTGCCCGGCCATGGC	XP_005274072.1:p.Ala79_Ile80insValCysProAlaMetAla
XM_011545053.1:c.356_357insGGTCTGCCCGGCCATGGC	XP_011543355.1:p.Ala119_Ile120insValCysProAlaMetAla
NM_002496.4:c.356_357insGGTCTGCCCGGCCATGGC MANE Select	NP_002487.1:p.Ala119_Ile120insValCysProAlaMetAla