Canonical Allele Identifier: CA2656619005

Gene: SOX10 POLR2F

Linked Data

• gnomAD v4: 22-37978025-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37978027_37978028del , CM000684.2:g.37978027_37978028del	GRCh38
NC_000022.10:g.38374034_38374035del , CM000684.1:g.38374034_38374035del	GRCh37
NC_000022.9:g.36703980_36703981del	NCBI36
NG_007948.1:g.11506_11507del , LRG_271:g.11506_11507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.753_754del (SOX10)	ENSP00000513596.1:p.Asn252ArgfsTer?
ENST00000690831.1:c.*159_*160del (SOX10)	ENSP00000510381.1:n.*159_*160del
ENST00000396884.8:c.537_538del (SOX10) MANE Select	ENSP00000380093.2:p.Asn180ArgfsTer?
ENST00000651746.1:c.5_6del (SOX10)
ENST00000360880.6:c.537_538del (SOX10)	ENSP00000354130.2:p.Asn180ArgfsTer?
ENST00000396884.6:c.537_538del (SOX10)	ENSP00000380093.2:p.Asn180ArgfsTer?
ENST00000405557.5:c.293+10857_293+10858del (POLR2F)	ENSP00000384112.1:n.293+10857_293+10858del
ENST00000407936.5:c.294-8127_294-8126del (POLR2F)	ENSP00000385725.1:n.294-8127_294-8126del
ENST00000427770.1:c.537_538del (SOX10)	ENSP00000414853.1:p.Asn180ArgfsTer?
ENST00000443002.5:c.*38+5717_*38+5718del (POLR2F)	ENSP00000406826.1:n.*38+5717_*38+5718del
ENST00000446929.5:c.167_168del (SOX10)
NM_001301130.1:c.294-8127_294-8126del (POLR2F)	NP_001288059.1:n.294-8127_294-8126del
NM_001301131.1:c.293+10857_293+10858del (POLR2F)	NP_001288060.1:n.293+10857_293+10858del
NM_006941.3:c.537_538del , LRG_271t1:c.537_538del (SOX10)	NP_008872.1:p.Asn180ArgfsTer?
XR_938243.1:n.158+5717_158+5718del
NM_001363825.1:c.*38+5717_*38+5718del (POLR2F)	NP_001350754.1:n.*38+5717_*38+5718del
NM_001301130.2:c.294-8127_294-8126del (POLR2F)	NP_001288059.1:n.294-8127_294-8126del
NM_001301131.2:c.293+10857_293+10858del (POLR2F)	NP_001288060.1:n.293+10857_293+10858del
NM_006941.4:c.537_538del (SOX10) MANE Select	NP_008872.1:p.Asn180ArgfsTer?