Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957990_87957992delinsCCA , CM000672.2:g.87957990_87957992delinsCCA	GRCh38
NC_000010.10:g.89717747_89717749delinsCCA , CM000672.1:g.89717747_89717749delinsCCA	GRCh37
NC_000010.9:g.89707727_89707729delinsCCA	NCBI36
NG_007466.2:g.99552_99554delinsCCA , LRG_311:g.99552_99554delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.772_774delinsCCA	ENSP00000514759.2:p.Phe258Pro
ENST00000710265.1:c.772_774delinsCCA	ENSP00000518161.1:p.Phe258Pro
ENST00000472832.3:c.772_774delinsCCA	ENSP00000483066.2:p.Phe258Pro
ENST00000688158.2:n.1507_1509delinsCCA
ENST00000688922.2:c.602_604delinsCCA	ENSP00000508742.2:n.602_604delinsCCA
ENST00000700021.1:c.727_729delinsCCA	ENSP00000514757.1:p.Phe243Pro
ENST00000700022.1:c.111_113delinsCCA	ENSP00000514758.1:n.111_113delinsCCA
ENST00000700023.1:n.1930_1932delinsCCA
ENST00000700024.1:n.2164_2166delinsCCA
ENST00000700025.1:n.1541_1543delinsCCA
ENST00000700026.1:n.409_411delinsCCA
ENST00000700029.1:c.606_608delinsCCA
ENST00000706954.1:c.772_774delinsCCA	ENSP00000516674.1:p.Phe258Pro
ENST00000706955.1:c.807_809delinsCCA	ENSP00000516675.1:n.807_809delinsCCA
ENST00000686459.1:c.358_360delinsCCA	ENSP00000508909.1:n.358_360delinsCCA
ENST00000688158.1:c.883_885delinsCCA	ENSP00000509254.1:n.883_885delinsCCA
ENST00000688308.1:c.772_774delinsCCA	ENSP00000508752.1:p.Phe258Pro
ENST00000688922.1:c.693_695delinsCCA
ENST00000693560.1:c.1291_1293delinsCCA	ENSP00000509861.1:p.Phe431Pro
ENST00000371953.8:c.772_774delinsCCA MANE Select	ENSP00000361021.3:p.Phe258Pro
ENST00000371953.7:c.772_774delinsCCA	ENSP00000361021.3:p.Phe258Pro
ENST00000472832.2:c.199_201delinsCCA	ENSP00000483066.1:p.Phe67Pro
NM_000314.5:c.772_774delinsCCA	NP_000305.3:p.Phe258Pro
NM_000314.6:c.772_774delinsCCA	NP_000305.3:p.Phe258Pro
NM_001304717.2:c.1291_1293delinsCCA	NP_001291646.2:p.Phe431Pro
NM_001304718.1:c.181_183delinsCCA	NP_001291647.1:p.Phe61Pro
XM_006717926.2:c.727_729delinsCCA	XP_006717989.1:p.Phe243Pro
XM_011539981.1:c.772_774delinsCCA	XP_011538283.1:p.Phe258Pro
XM_011539982.1:c.676_678delinsCCA	XP_011538284.1:p.Phe226Pro
XR_945791.1:n.1342_1344delinsCCA
NM_000314.7:c.772_774delinsCCA	NP_000305.3:p.Phe258Pro
NM_001304717.5:c.1291_1293delinsCCA	NP_001291646.4:p.Phe431Pro
NM_001304718.2:c.181_183delinsCCA	NP_001291647.1:p.Phe61Pro
NM_000314.8:c.772_774delinsCCA MANE Select	NP_000305.3:p.Phe258Pro