Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38455523_38455524insTGTCTCTACTAAAAATATAAAAATTAGCCA , CM000681.2:g.38455523_38455524insTGTCTCTACTAAAAATATAAAAATTAGCCA	GRCh38
NC_000019.9:g.38946163_38946164insTGTCTCTACTAAAAATATAAAAATTAGCCA , CM000681.1:g.38946163_38946164insTGTCTCTACTAAAAATATAAAAATTAGCCA	GRCh37
NC_000019.8:g.43638003_43638004insTGTCTCTACTAAAAATATAAAAATTAGCCA	NCBI36
NG_008866.1:g.26824_26825insTGTCTCTACTAAAAATATAAAAATTAGCCA , LRG_766:g.26824_26825insTGTCTCTACTAAAAATATAAAAATTAGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA	ENSP00000471601.2:p.Leu550_Asp551insValSerThrLysAsnIleLysIleS...
ENST00000359596.8:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA MANE Select	ENSP00000352608.2:p.Leu550_Asp551insValSerThrLysAsnIleLysIleS...
ENST00000355481.8:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA	ENSP00000347667.3:p.Leu550_Asp551insValSerThrLysAsnIleLysIleS...
ENST00000359596.7:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA	ENSP00000352608.2:p.Leu550_Asp551insValSerThrLysAsnIleLysIleS...
ENST00000360985.7:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA	ENSP00000354254.4:p.Leu550_Asp551insValSerThrLysAsnIleLysIleS...
NM_000540.2:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA , LRG_766t1:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA	NP_000531.2:p.Leu550_Asp551insValSerThrLysAsnIleLysIleSerGln
NM_001042723.1:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA	NP_001036188.1:p.Leu550_Asp551insValSerThrLysAsnIleLysIleSerG...
XM_006723317.1:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA	XP_006723380.1:p.Leu550_Asp551insValSerThrLysAsnIleLysIleSerG...
XM_006723319.1:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA	XP_006723382.1:p.Leu550_Asp551insValSerThrLysAsnIleLysIleSerG...
XM_011527204.1:c.1646_1647insTGTCTCTACTAAAAATATAAAAATTAGCCA	XP_011525506.1:p.Leu549_Asp550insValSerThrLysAsnIleLysIleSerG...
XM_011527205.1:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA	XP_011525507.1:p.Leu550_Asp551insValSerThrLysAsnIleLysIleSerG...
XM_006723317.2:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA	XP_006723380.1:p.Leu550_Asp551insValSerThrLysAsnIleLysIleSerG...
XM_006723319.2:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA	XP_006723382.1:p.Leu550_Asp551insValSerThrLysAsnIleLysIleSerG...
XM_011527205.2:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA	XP_011525507.1:p.Leu550_Asp551insValSerThrLysAsnIleLysIleSerG...
XR_001753735.1:n.1732_1733insTGTCTCTACTAAAAATATAAAAATTAGCCA
NM_000540.3:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA MANE Select	NP_000531.2:p.Leu550_Asp551insValSerThrLysAsnIleLysIleSerGln
NM_001042723.2:c.1649_1650insTGTCTCTACTAAAAATATAAAAATTAGCCA	NP_001036188.1:p.Leu550_Asp551insValSerThrLysAsnIleLysIleSerG...