Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24768593_24768619delinsAAAGGCCTTGGATATTGAAAAAATACC , CM000664.2:g.24768593_24768619delinsAAAGGCCTTGGATATTGAAAAAATACC	GRCh38
NC_000002.11:g.24991462_24991488delinsAAAGGCCTTGGATATTGAAAAAATACC , CM000664.1:g.24991462_24991488delinsAAAGGCCTTGGATATTGAAAAAATACC	GRCh37
NC_000002.10:g.24844966_24844992delinsAAAGGCCTTGGATATTGAAAAAATACC	NCBI36
NG_029014.1:g.189117_189143delinsAAAGGCCTTGGATATTGAAAAAATACC
NG_029014.2:g.281544_281570delinsAAAGGCCTTGGATATTGAAAAAATACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000348332.8:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC MANE Select	ENSP00000320940.5:n.202_228delinsAAAGGC...
ENST00000288599.9:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	ENSP00000288599.5:n.385_411delinsAAAGGC...
ENST00000348332.7:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	ENSP00000320940.5:n.202_228delinsAAAGGC...
ENST00000395856.3:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	ENSP00000379197.3:n.202_228delinsAAAGGC...
ENST00000405141.5:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	ENSP00000385097.1:n.385_411delinsAAAGGC...
ENST00000406961.5:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	ENSP00000385216.1:n.202_228delinsAAAGGC...
NM_003743.4:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_003734.3:n.202_228delinsAAAGGCCTTGGA...
NM_147223.2:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_671756.1:n.385_411delinsAAAGGCCTTGGA...
NM_147233.2:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_671766.1:n.202_228delinsAAAGGCCTTGGA...
XM_005264625.1:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	XP_005264682.1:n.202_228delinsAAAGGCCTT...
XM_005264626.1:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	XP_005264683.1:n.202_228delinsAAAGGCCTT...
XM_005264627.1:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	XP_005264684.1:n.385_411delinsAAAGGCCTT...
XM_005264628.1:c.382_408delinsAAAGGCCTTGGATATTGAAAAAATACC	XP_005264685.1:n.382_408delinsAAAGGCCTT...
XM_011533141.1:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	XP_011531443.1:n.202_228delinsAAAGGCCTT...
NM_001362950.1:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_001349879.1:n.385_411delinsAAAGGCCTT...
NM_001362952.1:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_001349881.1:n.385_411delinsAAAGGCCTT...
NM_001362954.1:c.382_408delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_001349883.1:n.382_408delinsAAAGGCCTT...
NM_001362955.1:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_001349884.1:n.385_411delinsAAAGGCCTT...
NM_003743.5:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC MANE Select	NP_003734.3:n.202_228delinsAAAGGCCTTGGA...
NM_147223.3:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_671756.1:n.385_411delinsAAAGGCCTTGGA...

HGVS	Amino-acid change
ENST00000348332.8:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC MANE Select	ENSP00000320940.5:n.202_228delinsAAAGGC...
ENST00000288599.9:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	ENSP00000288599.5:n.385_411delinsAAAGGC...
ENST00000348332.7:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	ENSP00000320940.5:n.202_228delinsAAAGGC...
ENST00000395856.3:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	ENSP00000379197.3:n.202_228delinsAAAGGC...
ENST00000405141.5:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	ENSP00000385097.1:n.385_411delinsAAAGGC...
ENST00000406961.5:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	ENSP00000385216.1:n.202_228delinsAAAGGC...
NM_003743.4:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_003734.3:n.202_228delinsAAAGGCCTTGGA...
NM_147223.2:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_671756.1:n.385_411delinsAAAGGCCTTGGA...
NM_147233.2:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_671766.1:n.202_228delinsAAAGGCCTTGGA...
XM_005264625.1:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	XP_005264682.1:n.202_228delinsAAAGGCCTT...
XM_005264626.1:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	XP_005264683.1:n.202_228delinsAAAGGCCTT...
XM_005264627.1:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	XP_005264684.1:n.385_411delinsAAAGGCCTT...
XM_005264628.1:c.382_408delinsAAAGGCCTTGGATATTGAAAAAATACC	XP_005264685.1:n.382_408delinsAAAGGCCTT...
XM_011533141.1:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC	XP_011531443.1:n.202_228delinsAAAGGCCTT...
NM_001362950.1:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_001349879.1:n.385_411delinsAAAGGCCTT...
NM_001362952.1:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_001349881.1:n.385_411delinsAAAGGCCTT...
NM_001362954.1:c.382_408delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_001349883.1:n.382_408delinsAAAGGCCTT...
NM_001362955.1:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_001349884.1:n.385_411delinsAAAGGCCTT...
NM_003743.5:c.202_228delinsAAAGGCCTTGGATATTGAAAAAATACC MANE Select	NP_003734.3:n.202_228delinsAAAGGCCTTGGA...
NM_147223.3:c.385_411delinsAAAGGCCTTGGATATTGAAAAAATACC	NP_671756.1:n.385_411delinsAAAGGCCTTGGA...