Canonical Allele Identifier: CA2638460576
Gene: TBX21 HGNC NCBI

Linked Data

gnomAD v4: 17-47733727-G-GTCCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47733731_47733734dup , CM000679.2:g.47733731_47733734dup GRCh38
NC_000017.10:g.45811097_45811100dup , CM000679.1:g.45811097_45811100dup GRCh37
NC_000017.9:g.43166096_43166099dup NCBI36
NG_012166.1:g.5488_5491dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000177694.2:c.277_280dup MANE Select ENSP00000177694.1:p.Pro94LeufsTer31
ENST00000177694.1:c.277_280dup ENSP00000177694.1:p.Pro94LeufsTer31
ENST00000581328.1:n.307_310dup
NM_013351.1:c.277_280dup NP_037483.1:p.Pro94LeufsTer31
XM_011524698.1:c.277_280dup XP_011523000.1:p.Pro94LeufsTer31
NM_013351.2:c.277_280dup MANE Select NP_037483.1:p.Pro94LeufsTer31
Search 100 bp 5'
Search 100 bp 3'