Canonical Allele Identifier: CA2499226185

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983523_37983587del , CM000684.2:g.37983523_37983587del	GRCh38
NC_000022.10:g.38379530_38379594del , CM000684.1:g.38379530_38379594del	GRCh37
NC_000022.9:g.36709476_36709540del	NCBI36
NG_007948.1:g.5946_6010del , LRG_271:g.5946_6010del

Transcript Alleles

HGVS	Amino-acid Change
NM_006941.4:c.198_262del (SOX10) MANE Select	NP_008872.1:p.Lys67AlafsTer?
ENST00000396884.8:c.198_262del (SOX10) MANE Select	ENSP00000380093.2:p.Lys67AlafsTer?
NM_001301130.1:c.294-2631_294-2567del (POLR2F)	NP_001288059.1:n.294-2631_294-2567del
NM_001301130.2:c.294-2631_294-2567del (POLR2F)	NP_001288059.1:n.294-2631_294-2567del
NM_001301131.1:c.293+16353_293+16417del (POLR2F)	NP_001288060.1:n.293+16353_293+16417del
NM_001301131.2:c.293+16353_293+16417del (POLR2F)	NP_001288060.1:n.293+16353_293+16417del
NM_001363825.1:c.*38+11213_*38+11277del (POLR2F)	NP_001350754.1:n.*38+11213_*38+11277del
NM_006941.3:c.198_262del , LRG_271t1:c.198_262del (SOX10)	NP_008872.1:p.Lys67AlafsTer?
ENST00000360880.6:c.198_262del (SOX10)	ENSP00000354130.2:p.Lys67AlafsTer?
ENST00000396884.6:c.198_262del (SOX10)	ENSP00000380093.2:p.Lys67AlafsTer?
ENST00000405557.5:c.293+16353_293+16417del (POLR2F)	ENSP00000384112.1:n.293+16353_293+16417del
ENST00000407936.5:c.294-2631_294-2567del (POLR2F)	ENSP00000385725.1:n.294-2631_294-2567del
ENST00000427770.1:c.198_262del (SOX10)	ENSP00000414853.1:p.Lys67AlafsTer?
ENST00000443002.5:c.*39-1529_*39-1465del (POLR2F)	ENSP00000406826.1:n.*39-1529_*39-1465del
ENST00000470555.1:n.70+752_70+816del (SOX10)
ENST00000652356.1:n.487_551del (SOX10)
ENST00000690831.1:c.198_262del (SOX10)	ENSP00000510381.1:p.Lys67AlafsTer?
ENST00000698177.1:c.414_478del (SOX10)	ENSP00000513596.1:p.Lys139AlafsTer?
XR_938243.1:n.158+11213_158+11277del