Canonical Allele Identifier: CA218510261
Gene: SOX6 HGNC NCBI
C11orf58 HGNC NCBI

Linked Data

dbSNP Id: rs778613690

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.16735350_16735351insA , CM000673.2:g.16735350_16735351insA GRCh38
NC_000011.9:g.16756897_16756898insA , CM000673.1:g.16756897_16756898insA GRCh37
NC_000011.8:g.16713473_16713474insA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000524520.5:n.353+988_353+989insT (SOX6)
ENST00000525259.1:n.267+988_267+989insT (SOX6)
ENST00000527893.5:n.405-9251_405-9250insA (C11orf58)
ENST00000530378.5:c.-335+988_-335+989insT (SOX6) ENSP00000432577.1:n.-335+988_-335+989insT
NM_001367872.1:c.-261+3074_-261+3075insT (SOX6) NP_001354801.1:n.-261+3074_-261+3075insT