Canonical Allele Identifier: CA627316050
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs979742822
gnomAD v2: 17-70118671-CTTAT-C
gnomAD v3: 17-72122530-CTTAT-C
gnomAD v4: 17-72122530-CTTAT-C
MyVariant Identifiers: chr17:g.70118672_70118675del (hg19) chr17:g.72122531_72122534del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122545_72122548del , CM000679.2:g.72122545_72122548del GRCh38
NC_000017.10:g.70118686_70118689del , CM000679.1:g.70118686_70118689del GRCh37
NC_000017.9:g.67630281_67630284del NCBI36
NG_012490.1:g.6526_6529del

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-174_432-171del MANE Select ENSP00000245479.2:n.432-174_432-171del
ENST00000245479.2:c.432-174_432-171del ENSP00000245479.2:n.432-174_432-171del
NM_000346.3:c.432-174_432-171del NP_000337.1:n.432-174_432-171del
NM_000346.4:c.432-174_432-171del MANE Select NP_000337.1:n.432-174_432-171del
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