Canonical Allele Identifier: CA1025592661

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs1932284539
• gnomAD v3: 22-37978219-T-TTGG
• gnomAD v4: 22-37978219-T-TTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37978219_37978220insTGG , CM000684.2:g.37978219_37978220insTGG	GRCh38
NC_000022.10:g.38374226_38374227insTGG , CM000684.1:g.38374226_38374227insTGG	GRCh37
NC_000022.9:g.36704172_36704173insTGG	NCBI36
NG_007948.1:g.11313_11314insCCA , LRG_271:g.11313_11314insCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.645-85_645-84insCCA (SOX10)	ENSP00000513596.1:n.645-85_645-84insCCA
ENST00000690831.1:c.*51-85_*51-84insCCA (SOX10)	ENSP00000510381.1:n.*51-85_*51-84insCCA
ENST00000396884.8:c.429-85_429-84insCCA (SOX10) MANE Select	ENSP00000380093.2:n.429-85_429-84insCCA
ENST00000360880.6:c.429-85_429-84insCCA (SOX10)	ENSP00000354130.2:n.429-85_429-84insCCA
ENST00000396884.6:c.429-85_429-84insCCA (SOX10)	ENSP00000380093.2:n.429-85_429-84insCCA
ENST00000405557.5:c.293+11049_293+11050insTGG (POLR2F)	ENSP00000384112.1:n.293+11049_293+11050insTGG
ENST00000407936.5:c.294-7935_294-7934insTGG (POLR2F)	ENSP00000385725.1:n.294-7935_294-7934insTGG
ENST00000427770.1:c.429-85_429-84insCCA (SOX10)	ENSP00000414853.1:n.429-85_429-84insCCA
ENST00000443002.5:c.*38+5909_*38+5910insTGG (POLR2F)	ENSP00000406826.1:n.*38+5909_*38+5910insTGG
ENST00000446929.5:c.59-85_59-84insCCA (SOX10)
ENST00000470555.1:n.71-85_71-84insCCA (SOX10)
NM_001301130.1:c.294-7935_294-7934insTGG (POLR2F)	NP_001288059.1:n.294-7935_294-7934insTGG
NM_001301131.1:c.293+11049_293+11050insTGG (POLR2F)	NP_001288060.1:n.293+11049_293+11050insTGG
NM_006941.3:c.429-85_429-84insCCA , LRG_271t1:c.429-85_429-84insCCA (SOX10)	NP_008872.1:n.429-85_429-84insCCA
XR_938243.1:n.158+5909_158+5910insTGG
NM_001363825.1:c.*38+5909_*38+5910insTGG (POLR2F)	NP_001350754.1:n.*38+5909_*38+5910insTGG
NM_001301130.2:c.294-7935_294-7934insTGG (POLR2F)	NP_001288059.1:n.294-7935_294-7934insTGG
NM_001301131.2:c.293+11049_293+11050insTGG (POLR2F)	NP_001288060.1:n.293+11049_293+11050insTGG
NM_006941.4:c.429-85_429-84insCCA (SOX10) MANE Select	NP_008872.1:n.429-85_429-84insCCA