Canonical Allele Identifier: CA597874587

Gene: SOX6 C11orf58

Linked Data

• dbSNP Id: rs1200340307
• gnomAD v2: 11-16756943-CTCAGCCAAAATGAACTGT-C
• gnomAD v3: 11-16735396-CTCAGCCAAAATGAACTGT-C
• gnomAD v4: 11-16735396-CTCAGCCAAAATGAACTGT-C
• MyVariant Identifiers: chr11:g.16756944_16756961del (hg19) ; chr11:g.16735397_16735414del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.16735399_16735416del , CM000673.2:g.16735399_16735416del	GRCh38
NC_000011.9:g.16756946_16756963del , CM000673.1:g.16756946_16756963del	GRCh37
NC_000011.8:g.16713522_16713539del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524520.5:n.353+925_353+942del (SOX6)
ENST00000525259.1:n.267+925_267+942del (SOX6)
ENST00000527893.5:n.405-9202_405-9185del (C11orf58)
ENST00000530378.5:c.-335+925_-335+942del (SOX6)	ENSP00000432577.1:n.-335+925_-335+942del
NM_001367872.1:c.-261+3011_-261+3028del (SOX6)	NP_001354801.1:n.-261+3011_-261+3028del