Canonical Allele Identifier: CA2621124341

Gene: TBX5

Linked Data

• gnomAD v4: 12-114355276-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114355282del , CM000674.2:g.114355282del	GRCh38
NC_000012.11:g.114793087del , CM000674.1:g.114793087del	GRCh37
NC_000012.10:g.113277470del	NCBI36
NG_007373.1:g.58166del , LRG_670:g.58166del

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.*255del MANE Select	ENSP00000384152.3:n.*255del
ENST00000310346.8:c.*255del	ENSP00000309913.4:n.*255del
ENST00000349716.9:c.*255del	ENSP00000337723.5:n.*255del
NM_000192.3:c.*255del , LRG_670t1:c.*255del	NP_000183.2:n.*255del
NM_080717.2:c.*255del	NP_542448.1:n.*255del
NM_181486.2:c.*255del	NP_852259.1:n.*255del
XM_017019912.1:c.*255del	XP_016875401.1:n.*255del
NM_080717.3:c.*255del	NP_542448.1:n.*255del
NM_181486.4:c.*255del MANE Select	NP_852259.1:n.*255del
NM_080717.4:c.*255del	NP_542448.1:n.*255del