Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216415382_216415383del , CM000664.2:g.216415382_216415383del	GRCh38
NC_000002.11:g.217280105_217280106del , CM000664.1:g.217280105_217280106del	GRCh37
NC_000002.10:g.216988350_216988351del	NCBI36
NG_009771.1:g.7969_7970del , LRG_108:g.7969_7970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.678_679del	ENSP00000394410.2:p.Gly227ValfsTer?
ENST00000430374.6:c.678_679del	ENSP00000405077.2:p.Gly227ValfsTer?
ENST00000444508.6:c.678_679del	ENSP00000398969.2:p.Gly227ValfsTer?
ENST00000697898.1:n.1039_1040del
ENST00000697899.1:c.678_679del	ENSP00000513470.1:p.Gly227ValfsTer?
ENST00000697900.1:n.954_955del
ENST00000697901.1:c.678_679del	ENSP00000513471.1:p.Gly227ValfsTer?
ENST00000697902.1:n.910_911del
ENST00000697903.1:c.678_679del	ENSP00000513472.1:p.Gly227ValfsTer?
ENST00000697904.1:c.678_679del	ENSP00000513473.1:p.Gly227ValfsTer?
ENST00000697905.1:c.678_679del	ENSP00000513474.1:p.Gly227ValfsTer?
ENST00000697906.1:c.678_679del	ENSP00000513475.1:p.Gly227ValfsTer?
ENST00000697907.1:c.678_679del	ENSP00000513476.1:p.Gly227ValfsTer?
ENST00000357276.9:c.678_679del MANE Select	ENSP00000349823.4:p.Gly227ValfsTer?
ENST00000357276.8:c.678_679del	ENSP00000349823.4:p.Gly227ValfsTer?
ENST00000358207.9:c.678_679del	ENSP00000350940.5:p.Gly227ValfsTer?
ENST00000392128.6:c.270_271del	ENSP00000375974.2:p.Gly91ValfsTer?
ENST00000427645.5:c.375_376del	ENSP00000392997.1:p.Gly126ValfsTer?
NM_001127207.1:c.678_679del	NP_001120679.1:p.Gly227ValfsTer?
NM_014140.3:c.678_679del , LRG_108t1:c.678_679del	NP_054859.2:p.Gly227ValfsTer?
XM_005246631.2:c.678_679del	XP_005246688.1:p.Gly227ValfsTer?
XM_005246632.1:c.678_679del	XP_005246689.1:p.Gly227ValfsTer?
XM_006712557.1:c.678_679del	XP_006712620.1:p.Gly227ValfsTer?
XM_005246632.2:c.678_679del	XP_005246689.1:p.Gly227ValfsTer?
XM_017004228.2:c.-239_-238del	XP_016859717.1:n.-239_-238del
NM_001127207.2:c.678_679del	NP_001120679.1:p.Gly227ValfsTer?
NM_014140.4:c.678_679del MANE Select	NP_054859.2:p.Gly227ValfsTer?