Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110964616_110964617insCTATACACCACTGAAGG , CM000672.2:g.110964616_110964617insCTATACACCACTGAAGG	GRCh38
NC_000010.10:g.112724374_112724375insCTATACACCACTGAAGG , CM000672.1:g.112724374_112724375insCTATACACCACTGAAGG	GRCh37
NC_000010.9:g.112714364_112714365insCTATACACCACTGAAGG	NCBI36
NG_028922.1:g.50074_50075insCTATACACCACTGAAGG , LRG_753:g.50074_50075insCTATACACCACTGAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.258_259insCTATACACCACTGAAGG	ENSP00000265277.5:p.Asn87LeufsTer10
ENST00000451838.2:c.-242-35799_-242-35798insCTATACACCACTGAAGG	ENSP00000408275.2:n.-242-35799_-242-35798insCTATACACCACTGAAGG...
ENST00000480155.2:n.494_495insCTATACACCACTGAAGG
ENST00000685059.1:c.258_259insCTATACACCACTGAAGG	ENSP00000510210.1:p.Asn87LeufsTer10
ENST00000685613.1:c.258_259insCTATACACCACTGAAGG	ENSP00000510564.1:p.Asn87LeufsTer10
ENST00000687592.1:n.557_558insCTATACACCACTGAAGG
ENST00000688928.1:c.258_259insCTATACACCACTGAAGG	ENSP00000509273.1:p.Asn87LeufsTer10
ENST00000689118.1:c.258_259insCTATACACCACTGAAGG	ENSP00000510554.1:p.Asn87LeufsTer10
ENST00000689300.1:c.258_259insCTATACACCACTGAAGG	ENSP00000510639.1:p.Asn87LeufsTer10
ENST00000689997.1:c.-380-21012_-380-21011insCTATACACCACTGAAGG	ENSP00000510700.1:n.-380-21012_-380-21011insCTATACACCACTGAAGG...
ENST00000691151.1:n.550_551insCTATACACCACTGAAGG
ENST00000691369.1:c.258_259insCTATACACCACTGAAGG	ENSP00000509754.1:p.Asn87LeufsTer10
ENST00000691441.1:c.258_259insCTATACACCACTGAAGG	ENSP00000509686.1:p.Asn87LeufsTer10
ENST00000691903.1:c.258_259insCTATACACCACTGAAGG	ENSP00000510314.1:p.Asn87LeufsTer10
ENST00000692776.1:c.258_259insCTATACACCACTGAAGG	ENSP00000508524.1:p.Asn87LeufsTer10
ENST00000369452.9:c.258_259insCTATACACCACTGAAGG MANE Select	ENSP00000358464.5:p.Asn87LeufsTer10
ENST00000265277.9:c.258_259insCTATACACCACTGAAGG	ENSP00000265277.5:p.Asn87LeufsTer10
ENST00000369452.8:c.258_259insCTATACACCACTGAAGG	ENSP00000358464.4:p.Asn87LeufsTer10
ENST00000489390.1:n.56-35799_56-35798insCTATACACCACTGAAGG
ENST00000489783.1:n.636_637insCTATACACCACTGAAGG
NM_001269039.1:c.258_259insCTATACACCACTGAAGG	NP_001255968.1:p.Asn87LeufsTer10
NM_007373.3:c.258_259insCTATACACCACTGAAGG , LRG_753t1:c.258_259insCTATACACCACTGAAGG	NP_031399.2:p.Asn87LeufsTer10
XM_011540216.1:c.-380-21012_-380-21011insCTATACACCACTGAAGG	XP_011538518.1:n.-380-21012_-380-21011insCTATACACCACTGAAGG
NM_001269039.2:c.258_259insCTATACACCACTGAAGG	NP_001255968.1:p.Asn87LeufsTer10
NM_001324336.1:c.258_259insCTATACACCACTGAAGG	NP_001311265.1:p.Asn87LeufsTer10
NM_001324337.1:c.258_259insCTATACACCACTGAAGG	NP_001311266.1:p.Asn87LeufsTer10
NR_136749.1:n.116-21012_116-21011insCTATACACCACTGAAGG
NM_007373.4:c.258_259insCTATACACCACTGAAGG MANE Select	NP_031399.2:p.Asn87LeufsTer10
NM_001269039.3:c.258_259insCTATACACCACTGAAGG	NP_001255968.1:p.Asn87LeufsTer10
NM_001324336.2:c.258_259insCTATACACCACTGAAGG	NP_001311265.1:p.Asn87LeufsTer10
NM_001324337.2:c.258_259insCTATACACCACTGAAGG	NP_001311266.1:p.Asn87LeufsTer10
NR_136749.2:n.55-21012_55-21011insCTATACACCACTGAAGG