Canonical Allele Identifier: CA2639603031

Gene: SOX9

Linked Data

• gnomAD v4: 17-72123405-GTGCAGCGCGCCTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123409_72123422del , CM000679.2:g.72123409_72123422del	GRCh38
NC_000017.10:g.70119550_70119563del , CM000679.1:g.70119550_70119563del	GRCh37
NC_000017.9:g.67631145_67631158del	NCBI36
NG_012490.1:g.7390_7403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.686-134_686-121del MANE Select	ENSP00000245479.2:n.686-134_686-121del
ENST00000245479.2:c.686-134_686-121del	ENSP00000245479.2:n.686-134_686-121del
NM_000346.3:c.686-134_686-121del	NP_000337.1:n.686-134_686-121del
NM_000346.4:c.686-134_686-121del MANE Select	NP_000337.1:n.686-134_686-121del