Canonical Allele Identifier: CA514776475

Gene: SOX10 POLR2F

Linked Data

• MyVariant Identifiers: chr22:g.38373899_38373900insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37977892dup , CM000684.2:g.37977892dup	GRCh38
NC_000022.10:g.38373899dup , CM000684.1:g.38373899dup	GRCh37
NC_000022.9:g.36703845dup	NCBI36
NG_007948.1:g.11641dup , LRG_271:g.11641dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.888dup (SOX10)	ENSP00000513596.1:p.Asp297ArgfsTer?
ENST00000690831.1:c.*294dup (SOX10)	ENSP00000510381.1:n.*294dup
ENST00000396884.8:c.672dup (SOX10) MANE Select	ENSP00000380093.2:p.Asp225ArgfsTer?
ENST00000651746.1:c.140dup (SOX10)
ENST00000360880.6:c.672dup (SOX10)	ENSP00000354130.2:p.Asp225ArgfsTer?
ENST00000396884.6:c.672dup (SOX10)	ENSP00000380093.2:p.Asp225ArgfsTer?
ENST00000405557.5:c.293+10722dup (POLR2F)	ENSP00000384112.1:n.293+10722dup
ENST00000407936.5:c.294-8262dup (POLR2F)	ENSP00000385725.1:n.294-8262dup
ENST00000443002.5:c.*38+5582dup (POLR2F)	ENSP00000406826.1:n.*38+5582dup
ENST00000446929.5:c.302dup (SOX10)
NM_001301130.1:c.294-8262dup (POLR2F)	NP_001288059.1:n.294-8262dup
NM_001301131.1:c.293+10722dup (POLR2F)	NP_001288060.1:n.293+10722dup
NM_006941.3:c.672dup , LRG_271t1:c.672dup (SOX10)	NP_008872.1:p.Asp225ArgfsTer?
XR_938243.1:n.158+5582dup
NM_001363825.1:c.*38+5582dup (POLR2F)	NP_001350754.1:n.*38+5582dup
NM_001301130.2:c.294-8262dup (POLR2F)	NP_001288059.1:n.294-8262dup
NM_001301131.2:c.293+10722dup (POLR2F)	NP_001288060.1:n.293+10722dup
NM_006941.4:c.672dup (SOX10) MANE Select	NP_008872.1:p.Asp225ArgfsTer?