Canonical Allele Identifier: CA2579753818
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v4: 17-72123563-A-ACCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123565_72123567dup , CM000679.2:g.72123565_72123567dup GRCh38
NC_000017.10:g.70119706_70119708dup , CM000679.1:g.70119706_70119708dup GRCh37
NC_000017.9:g.67631301_67631303dup NCBI36
NG_012490.1:g.7546_7548dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.708_710dup MANE Select ENSP00000245479.2:p.Pro237_Pro238insPro
ENST00000245479.2:c.708_710dup ENSP00000245479.2:p.Pro237_Pro238insPro
NM_000346.3:c.708_710dup NP_000337.1:p.Pro237_Pro238insPro
NM_000346.4:c.708_710dup MANE Select NP_000337.1:p.Pro237_Pro238insPro
Search 100 bp 5'
Search 100 bp 3'