Canonical Allele Identifier: CA2656618918

Gene: SOX10 POLR2F

Linked Data

• gnomAD v4: 22-37977990-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37977994del , CM000684.2:g.37977994del	GRCh38
NC_000022.10:g.38374001del , CM000684.1:g.38374001del	GRCh37
NC_000022.9:g.36703947del	NCBI36
NG_007948.1:g.11542del , LRG_271:g.11542del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698177.1:c.789del (SOX10)	ENSP00000513596.1:p.Gly264ValfsTer?
ENST00000690831.1:c.*195del (SOX10)	ENSP00000510381.1:n.*195del
ENST00000396884.8:c.573del (SOX10) MANE Select	ENSP00000380093.2:p.Gly192ValfsTer?
ENST00000651746.1:c.41del (SOX10)
ENST00000360880.6:c.573del (SOX10)	ENSP00000354130.2:p.Gly192ValfsTer?
ENST00000396884.6:c.573del (SOX10)	ENSP00000380093.2:p.Gly192ValfsTer?
ENST00000405557.5:c.293+10824del (POLR2F)	ENSP00000384112.1:n.293+10824del
ENST00000407936.5:c.294-8160del (POLR2F)	ENSP00000385725.1:n.294-8160del
ENST00000427770.1:c.573del (SOX10)	ENSP00000414853.1:p.Gly192ValfsTer?
ENST00000443002.5:c.*38+5684del (POLR2F)	ENSP00000406826.1:n.*38+5684del
ENST00000446929.5:c.203del (SOX10)
NM_001301130.1:c.294-8160del (POLR2F)	NP_001288059.1:n.294-8160del
NM_001301131.1:c.293+10824del (POLR2F)	NP_001288060.1:n.293+10824del
NM_006941.3:c.573del , LRG_271t1:c.573del (SOX10)	NP_008872.1:p.Gly192ValfsTer?
XR_938243.1:n.158+5684del
NM_001363825.1:c.*38+5684del (POLR2F)	NP_001350754.1:n.*38+5684del
NM_001301130.2:c.294-8160del (POLR2F)	NP_001288059.1:n.294-8160del
NM_001301131.2:c.293+10824del (POLR2F)	NP_001288060.1:n.293+10824del
NM_006941.4:c.573del (SOX10) MANE Select	NP_008872.1:p.Gly192ValfsTer?