Canonical Allele Identifier: CA291302032
Gene: TBX21 HGNC NCBI

Linked Data

dbSNP Id: rs1048266616
gnomAD v3: 17-47733404-CGCGGAGGG-C
gnomAD v4: 17-47733404-CGCGGAGGG-C
MyVariant Identifiers: chr17:g.45810771_45810778del (hg19) chr17:g.47733405_47733412del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47733409_47733416del , CM000679.2:g.47733409_47733416del GRCh38
NC_000017.10:g.45810775_45810782del , CM000679.1:g.45810775_45810782del GRCh37
NC_000017.9:g.43165774_43165781del NCBI36
NG_012166.1:g.5166_5173del

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.-46_-39del MANE Select ENSP00000177694.1:n.-46_-39del
ENST00000177694.1:c.-46_-39del ENSP00000177694.1:n.-46_-39del
NM_013351.1:c.-46_-39del NP_037483.1:n.-46_-39del
XM_011524698.1:c.-46_-39del XP_011523000.1:n.-46_-39del
NM_013351.2:c.-46_-39del MANE Select NP_037483.1:n.-46_-39del
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