Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.[140781609A>C;140781611C>A;140781613del] , CM000669.2:g.[140781609A>C;140781611C>A;140781613del]	GRCh38
NC_000007.13:g.[140481409A>C;140481411C>A;140481413del] , CM000669.1:g.[140481409A>C;140481411C>A;140481413del]	GRCh37
NC_000007.12:g.[140127878A>C;140127880C>A;140127882del]	NCBI36
NG_007873.3:g.[148152del;148154G>T;148156T>G] , LRG_299:g.[148152del;148154G>T;148156T>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646891.2:c.[1395del;1397G>T;1399T>G] MANE Select	ENSP00000493543.1:p.Gly466Ter
ENST00000288602.11:c.[1515del;1517G>T;1519T>G]	ENSP00000288602.7:p.Gly506Ter
ENST00000479537.6:c.[65del;67G>T;69T>G]
ENST00000496384.7:c.[1395del;1397G>T;1399T>G]	ENSP00000419060.2:p.Gly466Ter
ENST00000497784.2:c.[845del;847G>T;*849T>G]	ENSP00000420119.2:n.[845del;847G>T;*849T>G]
ENST00000642228.1:c.[473del;475G>T;*477T>G]	ENSP00000493678.1:n.[473del;475G>T;*477T>G]
ENST00000642875.1:n.[837del;839G>T;841T>G]
ENST00000644120.1:n.[1785del;1787G>T;1789T>G]
ENST00000644650.1:c.[491del;493G>T;495T>G]
ENST00000644905.1:n.[1484del;1486G>T;1488T>G]
ENST00000644969.2:c.[1515del;1517G>T;1519T>G] MANE Plus Clinical	ENSP00000496776.1:p.Gly506Ter
ENST00000646334.1:n.[525del;527G>T;529T>G]
ENST00000646730.1:c.[1395del;1397G>T;1399T>G]	ENSP00000494784.1:p.Gly466Ter
ENST00000646891.1:c.[1395del;1397G>T;1399T>G]	ENSP00000493543.1:p.Gly466Ter
ENST00000647434.1:c.[438del;440G>T;442T>G]	ENSP00000495132.1:p.Gly147TrpfsTer17
ENST00000288602.10:c.[1395del;1397G>T;1399T>G]	ENSP00000288602.6:p.Gly466Ter
ENST00000496384.6:c.[218del;220G>T;222T>G]
ENST00000497784.1:c.[1430del;1432G>T;1434T>G]	ENSP00000420119.1:n.[1430del;1432G>T;1434T>G]
NM_004333.4:c.[1395del;1397G>T;1399T>G] , LRG_299t1:c.[1395del;1397G>T;1399T>G]	NP_004324.2:p.Gly466Ter
XM_005250045.1:c.[1395del;1397G>T;1399T>G]	XP_005250102.1:p.Gly466Ter
XM_005250046.1:c.[1395del;1397G>T;1399T>G]	XP_005250103.1:p.Gly466Ter
XM_011516529.1:c.[1395del;1397G>T;1399T>G]	XP_011514831.1:p.Gly466Ter
XM_011516530.1:c.[1395del;1397G>T;1399T>G]	XP_011514832.1:p.Gly466Ter
XR_242190.1:n.[1403del;1405G>T;1407T>G]
XR_927520.1:n.[1403del;1405G>T;1407T>G]
XR_927521.1:n.[1403del;1405G>T;1407T>G]
XR_927522.1:n.[1403del;1405G>T;1407T>G]
XR_927523.1:n.[1403del;1405G>T;1407T>G]
NM_001354609.1:c.[1395del;1397G>T;1399T>G]	NP_001341538.1:p.Gly466Ter
NM_004333.5:c.[1395del;1397G>T;1399T>G]	NP_004324.2:p.Gly466Ter
NR_148928.1:n.[1700del;1702G>T;1704T>G]
XM_017012558.1:c.[1515del;1517G>T;1519T>G]	XP_016868047.1:p.Gly506Ter
XM_017012559.1:c.[1515del;1517G>T;1519T>G]	XP_016868048.1:p.Gly506Ter
XR_001744857.1:n.[1523del;1525G>T;1527T>G]
XR_001744858.1:n.[1523del;1525G>T;1527T>G]
NM_001354609.2:c.[1395del;1397G>T;1399T>G]	NP_001341538.1:p.Gly466Ter
NM_001374244.1:c.[1515del;1517G>T;1519T>G]	NP_001361173.1:p.Gly506Ter
NM_001374258.1:c.[1515del;1517G>T;1519T>G] MANE Plus Clinical	NP_001361187.1:p.Gly506Ter
NM_004333.6:c.[1395del;1397G>T;1399T>G] MANE Select	NP_004324.2:p.Gly466Ter
NM_001378467.1:c.[1404del;1406G>T;1408T>G]	NP_001365396.1:p.Gly469Ter
NM_001378468.1:c.[1395del;1397G>T;1399T>G]	NP_001365397.1:p.Gly466Ter
NM_001378469.1:c.[1329del;1331G>T;1333T>G]	NP_001365398.1:p.Gly444Ter
NM_001378470.1:c.[1293del;1295G>T;1297T>G]	NP_001365399.1:p.Gly432Ter
NM_001378471.1:c.[1284del;1286G>T;1288T>G]	NP_001365400.1:p.Gly429Ter
NM_001378472.1:c.[1239del;1241G>T;1243T>G]	NP_001365401.1:p.Gly414Ter
NM_001378473.1:c.[1239del;1241G>T;1243T>G]	NP_001365402.1:p.Gly414Ter
NM_001378474.1:c.[1395del;1397G>T;1399T>G]	NP_001365403.1:p.Gly466Ter
NM_001378475.1:c.[1131del;1133G>T;1135T>G]	NP_001365404.1:p.Gly378Ter