Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145660_44145664del , CM000669.2:g.44145660_44145664del	GRCh38
NC_000007.13:g.44185259_44185263del , CM000669.1:g.44185259_44185263del	GRCh37
NC_000007.12:g.44151784_44151788del	NCBI36
NG_008847.1:g.48760_48764del
NG_008847.2:g.57507_57511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1084_1088del	ENSP00000379142.4:n.1084_1088del
ENST00000616242.5:c.206_210del	ENSP00000482149.2:n.206_210del
ENST00000683378.1:n.312_316del
ENST00000336642.9:c.120_124del	ENSP00000338009.5:p.Asp41ArgfsTer?
ENST00000345378.7:c.1089_1093del	ENSP00000223366.2:p.Asp364ArgfsTer?
ENST00000403799.8:c.1086_1090del MANE Select	ENSP00000384247.3:p.Asp363ArgfsTer?
ENST00000671824.1:c.1149_1153del	ENSP00000500264.1:p.Asp384ArgfsTer?
ENST00000672743.1:n.98_102del
ENST00000673284.1:c.1086_1090del	ENSP00000499852.1:p.Asp363ArgfsTer?
ENST00000336642.8:c.138_142del	ENSP00000338009.4:p.Asp47ArgfsTer?
ENST00000345378.6:c.1089_1093del	ENSP00000223366.2:p.Asp364ArgfsTer?
ENST00000395796.7:c.1083_1087del	ENSP00000379142.3:p.Asp362ArgfsTer?
ENST00000403799.7:c.1086_1090del	ENSP00000384247.3:p.Asp363ArgfsTer?
ENST00000437084.1:c.1035_1039del	ENSP00000402840.1:p.Asp346ArgfsTer?
ENST00000459642.1:n.466_470del
ENST00000473353.1:n.384_388del
ENST00000616242.4:c.1083_1087del	ENSP00000482149.1:p.Asp362ArgfsTer?
NM_000162.3:c.1086_1090del	NP_000153.1:p.Asp363ArgfsTer?
NM_033507.1:c.1089_1093del	NP_277042.1:p.Asp364ArgfsTer?
NM_033508.1:c.1083_1087del	NP_277043.1:p.Asp362ArgfsTer?
NM_000162.4:c.1086_1090del	NP_000153.1:p.Asp363ArgfsTer?
NM_001354800.1:c.1086_1090del	NP_001341729.1:p.Asp363ArgfsTer?
NM_001354801.1:c.75_79del	NP_001341730.1:p.Asp26ArgfsTer?
NM_001354802.1:c.-55_-51del	NP_001341731.1:n.-55_-51del
NM_001354803.1:c.120_124del	NP_001341732.1:p.Asp41ArgfsTer?
NM_033507.2:c.1089_1093del	NP_277042.1:p.Asp364ArgfsTer?
NM_033508.2:c.1083_1087del	NP_277043.1:p.Asp362ArgfsTer?
XM_024446707.1:c.-55_-51del	XP_024302475.1:n.-55_-51del
NM_000162.5:c.1086_1090del MANE Select	NP_000153.1:p.Asp363ArgfsTer?
NM_033507.3:c.1089_1093del	NP_277042.1:p.Asp364ArgfsTer?
NM_033508.3:c.1083_1087del	NP_277043.1:p.Asp362ArgfsTer?
NM_001354803.2:c.120_124del	NP_001341732.1:p.Asp41ArgfsTer?