Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145716_44145717del , CM000669.2:g.44145716_44145717del	GRCh38
NC_000007.13:g.44185315_44185316del , CM000669.1:g.44185315_44185316del	GRCh37
NC_000007.12:g.44151840_44151841del	NCBI36
NG_008847.1:g.48708_48709del
NG_008847.2:g.57455_57456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1032_1033del	ENSP00000379142.4:n.1032_1033del
ENST00000616242.5:c.154_155del	ENSP00000482149.2:n.154_155del
ENST00000683378.1:n.260_261del
ENST00000336642.9:c.68_69del	ENSP00000338009.5:p.Arg23GlnfsTer?
ENST00000345378.7:c.1037_1038del	ENSP00000223366.2:p.Arg346GlnfsTer?
ENST00000403799.8:c.1034_1035del MANE Select	ENSP00000384247.3:p.Arg345GlnfsTer?
ENST00000671824.1:c.1097_1098del	ENSP00000500264.1:p.Arg366GlnfsTer?
ENST00000672743.1:n.46_47del
ENST00000673284.1:c.1034_1035del	ENSP00000499852.1:p.Arg345GlnfsTer?
ENST00000336642.8:c.86_87del	ENSP00000338009.4:p.Arg29GlnfsTer?
ENST00000345378.6:c.1037_1038del	ENSP00000223366.2:p.Arg346GlnfsTer?
ENST00000395796.7:c.1031_1032del	ENSP00000379142.3:p.Arg344GlnfsTer?
ENST00000403799.7:c.1034_1035del	ENSP00000384247.3:p.Arg345GlnfsTer?
ENST00000437084.1:c.983_984del	ENSP00000402840.1:p.Arg328GlnfsTer?
ENST00000459642.1:n.414_415del
ENST00000473353.1:n.332_333del
ENST00000616242.4:c.1031_1032del	ENSP00000482149.1:p.Arg344GlnfsTer?
NM_000162.3:c.1034_1035del	NP_000153.1:p.Arg345GlnfsTer?
NM_033507.1:c.1037_1038del	NP_277042.1:p.Arg346GlnfsTer?
NM_033508.1:c.1031_1032del	NP_277043.1:p.Arg344GlnfsTer?
NM_000162.4:c.1034_1035del	NP_000153.1:p.Arg345GlnfsTer?
NM_001354800.1:c.1034_1035del	NP_001341729.1:p.Arg345GlnfsTer?
NM_001354801.1:c.23_24del	NP_001341730.1:p.Arg8GlnfsTer?
NM_001354802.1:c.-107_-106del	NP_001341731.1:n.-107_-106del
NM_001354803.1:c.68_69del	NP_001341732.1:p.Arg23GlnfsTer?
NM_033507.2:c.1037_1038del	NP_277042.1:p.Arg346GlnfsTer?
NM_033508.2:c.1031_1032del	NP_277043.1:p.Arg344GlnfsTer?
XM_024446707.1:c.-107_-106del	XP_024302475.1:n.-107_-106del
NM_000162.5:c.1034_1035del MANE Select	NP_000153.1:p.Arg345GlnfsTer?
NM_033507.3:c.1037_1038del	NP_277042.1:p.Arg346GlnfsTer?
NM_033508.3:c.1031_1032del	NP_277043.1:p.Arg344GlnfsTer?
NM_001354803.2:c.68_69del	NP_001341732.1:p.Arg23GlnfsTer?