Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145149_44145161del , CM000669.2:g.44145149_44145161del	GRCh38
NC_000007.13:g.44184748_44184760del , CM000669.1:g.44184748_44184760del	GRCh37
NC_000007.12:g.44151273_44151285del	NCBI36
NG_008847.1:g.49263_49275del
NG_008847.2:g.58010_58022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1371_1383del	ENSP00000379142.4:n.1371_1383del
ENST00000616242.5:c.493_505del	ENSP00000482149.2:n.493_505del
ENST00000683378.1:n.599_611del
ENST00000336642.9:c.407_419del	ENSP00000338009.5:p.Lys136SerfsTer?
ENST00000345378.7:c.1376_1388del	ENSP00000223366.2:p.Lys459SerfsTer?
ENST00000403799.8:c.1373_1385del MANE Select	ENSP00000384247.3:p.Lys458SerfsTer?
ENST00000671824.1:c.1436_1448del	ENSP00000500264.1:p.Lys479SerfsTer?
ENST00000672743.1:n.381+4_381+16del
ENST00000673284.1:c.1369+4_1369+16del	ENSP00000499852.1:n.1369+4_1369+16del
ENST00000336642.8:c.425_437del	ENSP00000338009.4:p.Lys142SerfsTer?
ENST00000345378.6:c.1376_1388del	ENSP00000223366.2:p.Lys459SerfsTer?
ENST00000395796.7:c.1370_1382del	ENSP00000379142.3:p.Lys457SerfsTer?
ENST00000403799.7:c.1373_1385del	ENSP00000384247.3:p.Lys458SerfsTer?
ENST00000437084.1:c.1322_1334del	ENSP00000402840.1:p.Lys441SerfsTer?
ENST00000459642.1:n.753_765del
ENST00000616242.4:c.1370_1382del	ENSP00000482149.1:p.Lys457SerfsTer?
NM_000162.3:c.1373_1385del	NP_000153.1:p.Lys458SerfsTer?
NM_033507.1:c.1376_1388del	NP_277042.1:p.Lys459SerfsTer?
NM_033508.1:c.1370_1382del	NP_277043.1:p.Lys457SerfsTer?
NM_000162.4:c.1373_1385del	NP_000153.1:p.Lys458SerfsTer?
NM_001354800.1:c.1369+4_1369+16del	NP_001341729.1:n.1369+4_1369+16del
NM_001354801.1:c.362_374del	NP_001341730.1:p.Lys121SerfsTer?
NM_001354802.1:c.229+4_229+16del	NP_001341731.1:n.229+4_229+16del
NM_001354803.1:c.407_419del	NP_001341732.1:p.Lys136SerfsTer?
NM_033507.2:c.1376_1388del	NP_277042.1:p.Lys459SerfsTer?
NM_033508.2:c.1370_1382del	NP_277043.1:p.Lys457SerfsTer?
XM_024446707.1:c.233_245del	XP_024302475.1:p.Lys78SerfsTer?
NM_000162.5:c.1373_1385del MANE Select	NP_000153.1:p.Lys458SerfsTer?
NM_033507.3:c.1376_1388del	NP_277042.1:p.Lys459SerfsTer?
NM_033508.3:c.1370_1382del	NP_277043.1:p.Lys457SerfsTer?
NM_001354803.2:c.407_419del	NP_001341732.1:p.Lys136SerfsTer?