Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145242_44145248del , CM000669.2:g.44145242_44145248del	GRCh38
NC_000007.13:g.44184841_44184847del , CM000669.1:g.44184841_44184847del	GRCh37
NC_000007.12:g.44151366_44151372del	NCBI36
NG_008847.1:g.49177_49183del
NG_008847.2:g.57924_57930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1285_1291del	ENSP00000379142.4:n.1285_1291del
ENST00000616242.5:c.407_413del	ENSP00000482149.2:n.407_413del
ENST00000683378.1:n.513_519del
ENST00000336642.9:c.321_327del	ENSP00000338009.5:p.Arg107SerfsTer?
ENST00000345378.7:c.1290_1296del	ENSP00000223366.2:p.Arg430SerfsTer?
ENST00000403799.8:c.1287_1293del MANE Select	ENSP00000384247.3:p.Arg429SerfsTer?
ENST00000671824.1:c.1350_1356del	ENSP00000500264.1:p.Arg450SerfsTer?
ENST00000672743.1:n.299_305del
ENST00000673284.1:c.1287_1293del	ENSP00000499852.1:p.Arg429SerfsTer?
ENST00000336642.8:c.339_345del	ENSP00000338009.4:p.Arg113SerfsTer?
ENST00000345378.6:c.1290_1296del	ENSP00000223366.2:p.Arg430SerfsTer?
ENST00000395796.7:c.1284_1290del	ENSP00000379142.3:p.Arg428SerfsTer?
ENST00000403799.7:c.1287_1293del	ENSP00000384247.3:p.Arg429SerfsTer?
ENST00000437084.1:c.1236_1242del	ENSP00000402840.1:p.Arg412SerfsTer?
ENST00000459642.1:n.667_673del
ENST00000616242.4:c.1284_1290del	ENSP00000482149.1:p.Arg428SerfsTer?
NM_000162.3:c.1287_1293del	NP_000153.1:p.Arg429SerfsTer?
NM_033507.1:c.1290_1296del	NP_277042.1:p.Arg430SerfsTer?
NM_033508.1:c.1284_1290del	NP_277043.1:p.Arg428SerfsTer?
NM_000162.4:c.1287_1293del	NP_000153.1:p.Arg429SerfsTer?
NM_001354800.1:c.1287_1293del	NP_001341729.1:p.Arg429SerfsTer?
NM_001354801.1:c.276_282del	NP_001341730.1:p.Arg92SerfsTer?
NM_001354802.1:c.147_153del	NP_001341731.1:p.Arg49SerfsTer?
NM_001354803.1:c.321_327del	NP_001341732.1:p.Arg107SerfsTer?
NM_033507.2:c.1290_1296del	NP_277042.1:p.Arg430SerfsTer?
NM_033508.2:c.1284_1290del	NP_277043.1:p.Arg428SerfsTer?
XM_024446707.1:c.147_153del	XP_024302475.1:p.Arg49SerfsTer?
NM_000162.5:c.1287_1293del MANE Select	NP_000153.1:p.Arg429SerfsTer?
NM_033507.3:c.1290_1296del	NP_277042.1:p.Arg430SerfsTer?
NM_033508.3:c.1284_1290del	NP_277043.1:p.Arg428SerfsTer?
NM_001354803.2:c.321_327del	NP_001341732.1:p.Arg107SerfsTer?