Canonical Allele Identifier: CA3734458

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32067855_32067858del , CM000668.2:g.32067855_32067858del	GRCh38
NC_000006.11:g.32035632_32035635del , CM000668.1:g.32035632_32035635del	GRCh37
NC_000006.10:g.32143610_32143613del	NCBI36
NG_008337.2:g.46519_46522del

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.6349_6352del MANE Select	NP_001352205.1:p.Val2117ProfsTer?
ENST00000644971.2:c.6349_6352del MANE Select	ENSP00000496448.1:p.Val2117ProfsTer?
NM_001365276.1:c.6349_6352del	NP_001352205.1:p.Val2117ProfsTer?
NM_019105.6:c.6349_6352del	NP_061978.6:p.Val2117ProfsTer?
NM_019105.7:c.6349_6352del	NP_061978.6:p.Val2117ProfsTer?
NM_019105.8:c.6349_6352del	NP_061978.6:p.Val2117ProfsTer?
ENST00000375244.7:c.6349_6352del	ENSP00000364393.3:p.Val2117ProfsTer?
ENST00000613214.4:c.6610_6613del	ENSP00000480067.1:n.6610_6613del
ENST00000647633.1:c.7090_7093del	ENSP00000497649.1:p.Val2364ProfsTer?