Canonical Allele Identifier: CA2639603161
Gene: SOX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123925_72123933del , CM000679.2:g.72123925_72123933del GRCh38
NC_000017.10:g.70120066_70120074del , CM000679.1:g.70120066_70120074del GRCh37
NC_000017.9:g.67631661_67631669del NCBI36
NG_012490.1:g.7906_7914del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1068_1076del MANE Select ENSP00000245479.2:p.Gln357_Pro359del
ENST00000245479.2:c.1068_1076del ENSP00000245479.2:p.Gln357_Pro359del
NM_000346.3:c.1068_1076del NP_000337.1:p.Gln357_Pro359del
NM_000346.4:c.1068_1076del MANE Select NP_000337.1:p.Gln357_Pro359del