Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120989019_120989065delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG , CM000674.2:g.120989019_120989065delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG	GRCh38
NC_000012.11:g.121426822_121426868delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG , CM000674.1:g.121426822_121426868delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG	GRCh37
NC_000012.10:g.119911205_119911251delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG	NCBI36
NG_011731.2:g.15274_15320delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG , LRG_522:g.15274_15320delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
ENST00000257555.11:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
ENST00000257555.10:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
ENST00000400024.6:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
ENST00000402929.5:n.648_661+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
ENST00000535955.5:n.43-8472_43-8426delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
ENST00000538626.2:n.191-8472_191-8426delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
ENST00000538646.5:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
ENST00000540108.1:c.327-4501_327-4455delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG	ENSP00000445445.1:n.327-4501_327-4455delinsAGAGGTGGCGCAGCGTAA...
ENST00000541395.5:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
ENST00000541924.5:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
ENST00000543427.5:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
ENST00000544413.2:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
ENST00000544574.5:c.73-7598_73-7552delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG	ENSP00000438565.1:n.73-7598_73-7552delinsAGAGGTGGCGCAGCGTAAGT...
ENST00000560968.5:c.656_669+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
ENST00000615446.4:c.-257-7243_-257-7197delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG	ENSP00000483994.1:n.-257-7243_-257-7197delinsAGAGGTGGCGCAGCGT...
ENST00000617366.4:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
NM_000545.5:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG , LRG_522t1:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
NM_000545.6:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
NM_001306179.1:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
XM_005253931.2:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
XM_024449168.1:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
NM_000545.8:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG
NM_001306179.2:c.513_526+33delinsAGAGGTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGG