Canonical Allele Identifier: CA627589915
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1486257792
gnomAD v2: 17-70120137-A-ACACGCTGAC
gnomAD v4: 17-72123996-A-ACACGCTGAC
MyVariant Identifiers: chr17:g.70120137_70120138insCACGCTGAC (hg19) chr17:g.72123996_72123997insCACGCTGAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124005_72124013dup , CM000679.2:g.72124005_72124013dup GRCh38
NC_000017.10:g.70120146_70120154dup , CM000679.1:g.70120146_70120154dup GRCh37
NC_000017.9:g.67631741_67631749dup NCBI36
NG_012490.1:g.7986_7994dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1148_1156dup MANE Select ENSP00000245479.2:p.Leu385_Ser386insThrThrLeu
ENST00000245479.2:c.1148_1156dup ENSP00000245479.2:p.Leu385_Ser386insThrThrLeu
NM_000346.3:c.1148_1156dup NP_000337.1:p.Leu385_Ser386insThrThrLeu
NM_000346.4:c.1148_1156dup MANE Select NP_000337.1:p.Leu385_Ser386insThrThrLeu
Search 100 bp 5'
Search 100 bp 3'