Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57600118_57600122del , CM000673.2:g.57600118_57600122del	GRCh38
NC_000011.9:g.57367591_57367595del , CM000673.1:g.57367591_57367595del	GRCh37
NC_000011.8:g.57124167_57124171del	NCBI36
NG_009625.1:g.7565_7569del , LRG_105:g.7565_7569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.291_295del MANE Select	ENSP00000278407.4:p.Gln97HisfsTer?
ENST00000528996.2:c.58+1790_58+1794del	ENSP00000431226.2:n.58+1790_58+1794del
ENST00000531605.2:c.51+1797_51+1801del	ENSP00000503752.1:n.51+1797_51+1801del
ENST00000619430.2:c.291_295del	ENSP00000478572.2:p.Gln97HisfsTer?
ENST00000676670.1:c.291_295del	ENSP00000504807.1:p.Gln97HisfsTer?
ENST00000676741.1:n.1373_1377del
ENST00000677275.1:n.278_282del
ENST00000677624.1:c.291_295del	ENSP00000503979.1:p.Gln97HisfsTer?
ENST00000677625.1:c.291_295del	ENSP00000502857.1:p.Gln97HisfsTer?
ENST00000677856.1:n.350_354del
ENST00000677915.1:c.291_295del	ENSP00000503118.1:p.Gln97HisfsTer?
ENST00000678533.1:c.51+1797_51+1801del	ENSP00000503873.1:n.51+1797_51+1801del
ENST00000678592.1:c.291_295del	ENSP00000504424.1:p.Gln97HisfsTer?
ENST00000278407.8:c.291_295del	ENSP00000278407.4:p.Gln97HisfsTer?
ENST00000340687.10:c.291_295del	ENSP00000341861.6:p.Gln97HisfsTer?
ENST00000378323.8:c.306_310del	ENSP00000367574.4:p.Gln102HisfsTer?
ENST00000378324.6:c.135_139del	ENSP00000367575.2:p.Gln45HisfsTer?
ENST00000403558.1:c.393_397del	ENSP00000384420.1:p.Gln131HisfsTer?
ENST00000405496.5:c.291_295del	ENSP00000384561.1:p.Gln97HisfsTer?
ENST00000531133.5:c.51+1797_51+1801del	ENSP00000435431.1:n.51+1797_51+1801del
ENST00000531797.5:c.51+1797_51+1801del	ENSP00000432554.1:n.51+1797_51+1801del
ENST00000619430.1:c.291_295del	ENSP00000478572.1:p.Gln97HisfsTer?
NM_000062.2:c.291_295del , LRG_105t1:c.291_295del	NP_000053.2:p.Gln97HisfsTer?
NM_001032295.1:c.291_295del	NP_001027466.1:p.Gln97HisfsTer?
NM_000062.3:c.291_295del MANE Select	NP_000053.2:p.Gln97HisfsTer?
NM_001032295.2:c.291_295del	NP_001027466.1:p.Gln97HisfsTer?