Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.8605231_8605242delinsGGCTATTTGCAC , CM000674.2:g.8605231_8605242delinsGGCTATTTGCAC	GRCh38
NC_000012.11:g.8757827_8757838delinsGGCTATTTGCAC , CM000674.1:g.8757827_8757838delinsGGCTATTTGCAC	GRCh37
NC_000012.10:g.8649094_8649105delinsGGCTATTTGCAC	NCBI36
NG_011588.1:g.12605_12616delinsGTGCAAATAGCC , LRG_17:g.12605_12616delinsGTGCAAATAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000537228.6:c.400_411delinsGTGCAAATAGCC	ENSP00000445691.1:p.Val134=
ENST00000543081.6:c.400_411delinsGTGCAAATAGCC	ENSP00000439103.2:p.Val134=
ENST00000544516.6:c.157-905_157-894delinsGTGCAAATAGCC	ENSP00000439538.2:n.157-905_157-894delinsGTGCAAATAGCC
ENST00000545576.2:n.509_520delinsGTGCAAATAGCC
ENST00000696246.1:c.385_396delinsGTGCAAATAGCC	ENSP00000512504.1:p.Val129=
ENST00000696271.1:n.520_531delinsGTGCAAATAGCC
ENST00000696272.1:c.385_396delinsGTGCAAATAGCC	ENSP00000512515.1:p.Val129=
ENST00000696273.1:c.433_444delinsGTGCAAATAGCC	ENSP00000512516.1:p.Val145=
ENST00000229335.11:c.400_411delinsGTGCAAATAGCC MANE Select	ENSP00000229335.6:p.Val134=
ENST00000229335.10:c.400_411delinsGTGCAAATAGCC	ENSP00000229335.6:p.Val134=
ENST00000537228.5:c.400_411delinsGTGCAAATAGCC	ENSP00000445691.1:p.Val134=
ENST00000543081.5:c.396_407delinsGTGCAAATAGCC
ENST00000544516.5:c.153-905_153-894delinsGTGCAAATAGCC
ENST00000545512.1:c.396_407delinsGTGCAAATAGCC
ENST00000545576.1:n.434_445delinsGTGCAAATAGCC
NM_020661.2:c.400_411delinsGTGCAAATAGCC , LRG_17t1:c.400_411delinsGTGCAAATAGCC	NP_065712.1:p.Val134=
XM_011520772.1:c.400_411delinsGTGCAAATAGCC	XP_011519074.1:p.Val134=
XM_011520773.1:c.400_411delinsGTGCAAATAGCC	XP_011519075.1:p.Val134=
NM_001330343.1:c.400_411delinsGTGCAAATAGCC	NP_001317272.1:p.Val134=
NM_020661.3:c.400_411delinsGTGCAAATAGCC	NP_065712.1:p.Val134=
XM_011520773.2:c.400_411delinsGTGCAAATAGCC	XP_011519075.1:p.Val134=
NM_020661.4:c.400_411delinsGTGCAAATAGCC MANE Select	NP_065712.1:p.Val134=
NM_001330343.2:c.400_411delinsGTGCAAATAGCC	NP_001317272.1:p.Val134=