Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973259_37973265delinsCAGTCAA , CM000684.2:g.37973259_37973265delinsCAGTCAA	GRCh38
NC_000022.10:g.38369266_38369272delinsCAGTCAA , CM000684.1:g.38369266_38369272delinsCAGTCAA	GRCh37
NC_000022.9:g.36699212_36699218delinsCAGTCAA	NCBI36
NG_007948.1:g.16268_16274delinsTTGACTG , LRG_271:g.16268_16274delinsTTGACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.230_236delinsTTGACTG (SOX10)	ENSP00000513596.1:n.230_236delinsTTGACTG
ENST00000690831.1:c.1253_1259delinsTTGACTG (SOX10)	ENSP00000510381.1:n.1253_1259delinsTTGACTG
ENST00000396884.8:c.230_236delinsTTGACTG (SOX10) MANE Select	ENSP00000380093.2:n.230_236delinsTTGACTG
ENST00000651746.1:c.166-2261_166-2255delinsTTGACTG (SOX10)
ENST00000360880.6:c.230_236delinsTTGACTG (SOX10)	ENSP00000354130.2:n.230_236delinsTTGACTG
ENST00000396884.6:c.230_236delinsTTGACTG (SOX10)	ENSP00000380093.2:n.230_236delinsTTGACTG
ENST00000405557.5:c.293+6089_293+6095delinsCAGTCAA (POLR2F)	ENSP00000384112.1:n.293+6089_293+6095delinsCAGTCAA
ENST00000407936.5:c.293+6089_293+6095delinsCAGTCAA (POLR2F)	ENSP00000385725.1:n.293+6089_293+6095delinsCAGTCAA
ENST00000443002.5:c.38+949_38+955delinsCAGTCAA (POLR2F)	ENSP00000406826.1:n.38+949_38+955delinsCAGTCAA
ENST00000446929.5:c.482+779_482+785delinsTTGACTG (SOX10)
NM_001301130.1:c.293+6089_293+6095delinsCAGTCAA (POLR2F)	NP_001288059.1:n.293+6089_293+6095delinsCAGTCAA
NM_001301131.1:c.293+6089_293+6095delinsCAGTCAA (POLR2F)	NP_001288060.1:n.293+6089_293+6095delinsCAGTCAA
NM_006941.3:c.230_236delinsTTGACTG , LRG_271t1:c.230_236delinsTTGACTG (SOX10)	NP_008872.1:n.230_236delinsTTGACTG
XR_938243.1:n.158+949_158+955delinsCAGTCAA
NM_001363825.1:c.38+949_38+955delinsCAGTCAA (POLR2F)	NP_001350754.1:n.38+949_38+955delinsCAGTCAA
NM_001301130.2:c.293+6089_293+6095delinsCAGTCAA (POLR2F)	NP_001288059.1:n.293+6089_293+6095delinsCAGTCAA
NM_001301131.2:c.293+6089_293+6095delinsCAGTCAA (POLR2F)	NP_001288060.1:n.293+6089_293+6095delinsCAGTCAA
NM_006941.4:c.230_236delinsTTGACTG (SOX10) MANE Select	NP_008872.1:n.230_236delinsTTGACTG

HGVS	Amino-acid Change
ENST00000698177.1:c.230_236delinsTTGACTG (SOX10)	ENSP00000513596.1:n.230_236delinsTTGACTG
ENST00000690831.1:c.1253_1259delinsTTGACTG (SOX10)	ENSP00000510381.1:n.1253_1259delinsTTGACTG
ENST00000396884.8:c.230_236delinsTTGACTG (SOX10) MANE Select	ENSP00000380093.2:n.230_236delinsTTGACTG
ENST00000651746.1:c.166-2261_166-2255delinsTTGACTG (SOX10)
ENST00000360880.6:c.230_236delinsTTGACTG (SOX10)	ENSP00000354130.2:n.230_236delinsTTGACTG
ENST00000396884.6:c.230_236delinsTTGACTG (SOX10)	ENSP00000380093.2:n.230_236delinsTTGACTG
ENST00000405557.5:c.293+6089_293+6095delinsCAGTCAA (POLR2F)	ENSP00000384112.1:n.293+6089_293+6095delinsCAGTCAA
ENST00000407936.5:c.293+6089_293+6095delinsCAGTCAA (POLR2F)	ENSP00000385725.1:n.293+6089_293+6095delinsCAGTCAA
ENST00000443002.5:c.38+949_38+955delinsCAGTCAA (POLR2F)	ENSP00000406826.1:n.38+949_38+955delinsCAGTCAA
ENST00000446929.5:c.482+779_482+785delinsTTGACTG (SOX10)
NM_001301130.1:c.293+6089_293+6095delinsCAGTCAA (POLR2F)	NP_001288059.1:n.293+6089_293+6095delinsCAGTCAA
NM_001301131.1:c.293+6089_293+6095delinsCAGTCAA (POLR2F)	NP_001288060.1:n.293+6089_293+6095delinsCAGTCAA
NM_006941.3:c.230_236delinsTTGACTG , LRG_271t1:c.230_236delinsTTGACTG (SOX10)	NP_008872.1:n.230_236delinsTTGACTG
XR_938243.1:n.158+949_158+955delinsCAGTCAA
NM_001363825.1:c.38+949_38+955delinsCAGTCAA (POLR2F)	NP_001350754.1:n.38+949_38+955delinsCAGTCAA
NM_001301130.2:c.293+6089_293+6095delinsCAGTCAA (POLR2F)	NP_001288059.1:n.293+6089_293+6095delinsCAGTCAA
NM_001301131.2:c.293+6089_293+6095delinsCAGTCAA (POLR2F)	NP_001288060.1:n.293+6089_293+6095delinsCAGTCAA
NM_006941.4:c.230_236delinsTTGACTG (SOX10) MANE Select	NP_008872.1:n.230_236delinsTTGACTG