Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34887003_34887004insTGTGCT , CM000683.2:g.34887003_34887004insTGTGCT	GRCh38
NC_000021.8:g.36259300_36259301insTGTGCT , CM000683.1:g.36259300_36259301insTGTGCT	GRCh37
NC_000021.7:g.35181170_35181171insTGTGCT	NCBI36
NG_011402.2:g.1102708_1102709insAGCACA , LRG_482:g.1102708_1102709insAGCACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.190_191insAGCACA MANE Select	ENSP00000501943.1:p.Gly64delinsGluHisSer
ENST00000300305.7:c.190_191insAGCACA	ENSP00000300305.3:p.Gly64delinsGluHisSer
ENST00000344691.8:c.109_110insAGCACA	ENSP00000340690.4:p.Gly37delinsGluHisSer
ENST00000358356.9:c.109_110insAGCACA	ENSP00000351123.5:p.Gly37delinsGluHisSer
ENST00000399237.6:c.154_155insAGCACA	ENSP00000382182.2:p.Gly52delinsGluHisSer
ENST00000399240.5:c.109_110insAGCACA	ENSP00000382184.1:p.Gly37delinsGluHisSer
ENST00000437180.5:c.190_191insAGCACA	ENSP00000409227.1:p.Gly64delinsGluHisSer
ENST00000455571.5:c.151_152insAGCACA	ENSP00000388189.1:p.Gly51delinsGluHisSer
ENST00000482318.5:c.59-6291_59-6290insAGCACA	ENSP00000477067.1:n.59-6291_59-6290insAGCACA
NM_001001890.2:c.109_110insAGCACA	NP_001001890.1:p.Gly37delinsGluHisSer
NM_001122607.1:c.109_110insAGCACA	NP_001116079.1:p.Gly37delinsGluHisSer
NM_001754.4:c.190_191insAGCACA , LRG_482t1:c.190_191insAGCACA	NP_001745.2:p.Gly64delinsGluHisSer
XM_005261068.3:c.154_155insAGCACA	XP_005261125.1:p.Gly52delinsGluHisSer
XM_005261069.3:c.190_191insAGCACA	XP_005261126.1:p.Gly64delinsGluHisSer
XM_011529766.1:c.190_191insAGCACA	XP_011528068.1:p.Gly64delinsGluHisSer
XM_011529767.1:c.151_152insAGCACA	XP_011528069.1:p.Gly51delinsGluHisSer
XM_011529768.1:c.151_152insAGCACA	XP_011528070.1:p.Gly51delinsGluHisSer
XM_011529770.1:c.190_191insAGCACA	XP_011528072.1:p.Gly64delinsGluHisSer
XR_937576.1:n.369_370insAGCACA
XM_005261069.4:c.190_191insAGCACA	XP_005261126.1:p.Gly64delinsGluHisSer
XM_011529766.2:c.190_191insAGCACA	XP_011528068.1:p.Gly64delinsGluHisSer
XM_011529767.2:c.151_152insAGCACA	XP_011528069.1:p.Gly51delinsGluHisSer
XM_011529768.2:c.151_152insAGCACA	XP_011528070.1:p.Gly51delinsGluHisSer
XM_011529770.2:c.190_191insAGCACA	XP_011528072.1:p.Gly64delinsGluHisSer
XM_017028487.1:c.37_38insAGCACA	XP_016883976.1:p.Gly13delinsGluHisSer
XR_937576.2:n.416_417insAGCACA
NM_001001890.3:c.109_110insAGCACA	NP_001001890.1:p.Gly37delinsGluHisSer
NM_001122607.2:c.109_110insAGCACA	NP_001116079.1:p.Gly37delinsGluHisSer
NM_001754.5:c.190_191insAGCACA MANE Select	NP_001745.2:p.Gly64delinsGluHisSer