Canonical Allele Identifier: CA2695230856

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983658_37983659delinsAG , CM000684.2:g.37983658_37983659delinsAG	GRCh38
NC_000022.10:g.38379665_38379666delinsAG , CM000684.1:g.38379665_38379666delinsAG	GRCh37
NC_000022.9:g.36709611_36709612delinsAG	NCBI36
NG_007948.1:g.5874_5875delinsCT , LRG_271:g.5874_5875delinsCT

Transcript Alleles

HGVS	Amino-acid Change
NM_006941.4:c.126_127delinsCT (SOX10) MANE Select	NP_008872.1:p.Leu43Ter
ENST00000396884.8:c.126_127delinsCT (SOX10) MANE Select	ENSP00000380093.2:p.Leu43Ter
NM_001301130.1:c.294-2496_294-2495delinsAG (POLR2F)	NP_001288059.1:n.294-2496_294-2495delinsAG
NM_001301130.2:c.294-2496_294-2495delinsAG (POLR2F)	NP_001288059.1:n.294-2496_294-2495delinsAG
NM_001301131.1:c.293+16488_293+16489delinsAG (POLR2F)	NP_001288060.1:n.293+16488_293+16489delinsAG
NM_001301131.2:c.293+16488_293+16489delinsAG (POLR2F)	NP_001288060.1:n.293+16488_293+16489delinsAG
NM_001363825.1:c.*38+11348_*38+11349delinsAG (POLR2F)	NP_001350754.1:n.*38+11348_*38+11349delinsAG
NM_006941.3:c.126_127delinsCT , LRG_271t1:c.126_127delinsCT (SOX10)	NP_008872.1:p.Leu43Ter
ENST00000360880.6:c.126_127delinsCT (SOX10)	ENSP00000354130.2:p.Leu43Ter
ENST00000396884.6:c.126_127delinsCT (SOX10)	ENSP00000380093.2:p.Leu43Ter
ENST00000405557.5:c.293+16488_293+16489delinsAG (POLR2F)	ENSP00000384112.1:n.293+16488_293+16489delinsAG
ENST00000407936.5:c.294-2496_294-2495delinsAG (POLR2F)	ENSP00000385725.1:n.294-2496_294-2495delinsAG
ENST00000427770.1:c.126_127delinsCT (SOX10)	ENSP00000414853.1:p.Leu43Ter
ENST00000443002.5:c.*39-1394_*39-1393delinsAG (POLR2F)	ENSP00000406826.1:n.*39-1394_*39-1393delinsAG
ENST00000470555.1:n.70+680_70+681delinsCT (SOX10)
ENST00000652356.1:n.415_416delinsCT (SOX10)
ENST00000690831.1:c.126_127delinsCT (SOX10)	ENSP00000510381.1:p.Leu43Ter
ENST00000698177.1:c.342_343delinsCT (SOX10)	ENSP00000513596.1:p.Leu115Ter
XR_938243.1:n.158+11348_158+11349delinsAG