Canonical Allele Identifier: CA2638460581

Gene: TBX21

Linked Data

• gnomAD v4: 17-47733730-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47733732del , CM000679.2:g.47733732del	GRCh38
NC_000017.10:g.45811098del , CM000679.1:g.45811098del	GRCh37
NC_000017.9:g.43166097del	NCBI36
NG_012166.1:g.5489del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000177694.2:c.278del MANE Select	ENSP00000177694.1:p.Phe93SerfsTer?
ENST00000177694.1:c.278del	ENSP00000177694.1:p.Phe93SerfsTer?
ENST00000581328.1:n.308del
NM_013351.1:c.278del	NP_037483.1:p.Phe93SerfsTer?
XM_011524698.1:c.278del	XP_011523000.1:p.Phe93SerfsTer?
NM_013351.2:c.278del MANE Select	NP_037483.1:p.Phe93SerfsTer?