Canonical Allele Identifier: CA1025592694

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs1932292059
• gnomAD v3: 22-37978419-TTAGAAG-T
• gnomAD v4: 22-37978419-TTAGAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37978423_37978428del , CM000684.2:g.37978423_37978428del	GRCh38
NC_000022.10:g.38374430_38374435del , CM000684.1:g.38374430_38374435del	GRCh37
NC_000022.9:g.36704376_36704381del	NCBI36
NG_007948.1:g.11108_11113del , LRG_271:g.11108_11113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.645-290_645-285del (SOX10)	ENSP00000513596.1:n.645-290_645-285del
ENST00000690831.1:c.*50+174_*50+179del (SOX10)	ENSP00000510381.1:n.*50+174_*50+179del
ENST00000396884.8:c.429-290_429-285del (SOX10) MANE Select	ENSP00000380093.2:n.429-290_429-285del
ENST00000360880.6:c.429-290_429-285del (SOX10)	ENSP00000354130.2:n.429-290_429-285del
ENST00000396884.6:c.429-290_429-285del (SOX10)	ENSP00000380093.2:n.429-290_429-285del
ENST00000405557.5:c.293+11253_293+11258del (POLR2F)	ENSP00000384112.1:n.293+11253_293+11258del
ENST00000407936.5:c.294-7731_294-7726del (POLR2F)	ENSP00000385725.1:n.294-7731_294-7726del
ENST00000427770.1:c.429-290_429-285del (SOX10)	ENSP00000414853.1:n.429-290_429-285del
ENST00000443002.5:c.*38+6113_*38+6118del (POLR2F)	ENSP00000406826.1:n.*38+6113_*38+6118del
ENST00000446929.5:c.59-290_59-285del (SOX10)
ENST00000470555.1:n.71-290_71-285del (SOX10)
NM_001301130.1:c.294-7731_294-7726del (POLR2F)	NP_001288059.1:n.294-7731_294-7726del
NM_001301131.1:c.293+11253_293+11258del (POLR2F)	NP_001288060.1:n.293+11253_293+11258del
NM_006941.3:c.429-290_429-285del , LRG_271t1:c.429-290_429-285del (SOX10)	NP_008872.1:n.429-290_429-285del
XR_938243.1:n.158+6113_158+6118del
NM_001363825.1:c.*38+6113_*38+6118del (POLR2F)	NP_001350754.1:n.*38+6113_*38+6118del
NM_001301130.2:c.294-7731_294-7726del (POLR2F)	NP_001288059.1:n.294-7731_294-7726del
NM_001301131.2:c.293+11253_293+11258del (POLR2F)	NP_001288060.1:n.293+11253_293+11258del
NM_006941.4:c.429-290_429-285del (SOX10) MANE Select	NP_008872.1:n.429-290_429-285del