Canonical Allele Identifier: CA2639603022
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v4: 17-72123397-T-TA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123398dup , CM000679.2:g.72123398dup GRCh38
NC_000017.10:g.70119539dup , CM000679.1:g.70119539dup GRCh37
NC_000017.9:g.67631134dup NCBI36
NG_012490.1:g.7379dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-145dup MANE Select ENSP00000245479.2:n.686-145dup
ENST00000245479.2:c.686-145dup ENSP00000245479.2:n.686-145dup
NM_000346.3:c.686-145dup NP_000337.1:n.686-145dup
NM_000346.4:c.686-145dup MANE Select NP_000337.1:n.686-145dup
Search 100 bp 5'
Search 100 bp 3'