Canonical Allele Identifier: CA2999856321

Gene: TBX6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30086139_30086173del , CM000678.2:g.30086139_30086173del	GRCh38
NC_000016.9:g.30097460_30097494del , CM000678.1:g.30097460_30097494del	GRCh37
NC_000016.8:g.30004961_30004995del	NCBI36
NG_023283.1:g.10713_10747del

Transcript Alleles

HGVS	Amino-acid Change
NM_004608.4:c.*53_*87del MANE Select	NP_004599.2:n.*53_*87del
ENST00000395224.7:c.*53_*87del MANE Select	ENSP00000378650.2:n.*53_*87del
NM_004608.3:c.*53_*87del	NP_004599.2:n.*53_*87del
ENST00000279386.6:c.*53_*87del	ENSP00000279386.2:n.*53_*87del
ENST00000395224.6:c.*53_*87del	ENSP00000378650.2:n.*53_*87del
ENST00000567664.5:c.*498_*532del	ENSP00000460425.1:n.*498_*532del
ENST00000627355.2:c.*53_*87del	ENSP00000485762.1:n.*53_*87del
XM_005255523.1:c.*53_*87del	XP_005255580.1:n.*53_*87del
XM_005255523.2:c.*53_*87del	XP_005255580.1:n.*53_*87del
XM_011545926.1:c.*53_*87del	XP_011544228.1:n.*53_*87del
XM_011545926.3:c.*53_*87del	XP_011544228.1:n.*53_*87del
XM_017023614.1:c.*53_*87del	XP_016879103.1:n.*53_*87del