Canonical Allele Identifier: CA2634177644

Gene: HP TXNL4B

Linked Data

• gnomAD v4: 16-72060583-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060585del , CM000678.2:g.72060585del	GRCh38
NC_000016.9:g.72094484del , CM000678.1:g.72094484del	GRCh37
NC_000016.8:g.70651985del	NCBI36
NG_012651.1:g.10977del
NG_030311.1:g.2360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.916del (HP) MANE Select	ENSP00000348170.5:p.Gln306LysfsTer5
ENST00000228226.12:c.541del (HP)	ENSP00000228226.9:p.Gln181LysfsTer5
ENST00000355906.9:c.916del (HP)	ENSP00000348170.5:p.Gln306LysfsTer5
ENST00000357763.8:c.1024del (HP)	ENSP00000350406.5:p.Gln342LysfsTer5
ENST00000398131.6:c.739del (HP)	ENSP00000381199.2:p.Gln247LysfsTer5
ENST00000562153.5:c.285-16227del (TXNL4B)	ENSP00000454635.1:n.285-16227del
ENST00000562526.5:c.266-78del (HP)	ENSP00000454413.1:n.266-78del
ENST00000564499.5:c.619del (HP)	ENSP00000456503.1:p.Gln207LysfsTer5
ENST00000565574.5:c.739del (HP)	ENSP00000454966.1:p.Gln247LysfsTer5
ENST00000566821.1:n.2555del (HP)
ENST00000567185.7:c.908del (HP)
ENST00000567612.2:c.791del (HP)
ENST00000570083.5:c.739del (HP)	ENSP00000457629.1:p.Gln247LysfsTer5
ENST00000613898.1:c.541del (HP)	ENSP00000478279.1:p.Gln181LysfsTer5
NM_001126102.1:c.739del (HP)	NP_001119574.1:p.Gln247LysfsTer5
NM_005143.3:c.916del (HP)	NP_005134.1:p.Gln306LysfsTer5
XM_005255922.3:c.739del (HP)	XP_005255979.2:p.Gln247LysfsTer5
NM_001126102.2:c.739del (HP)	NP_001119574.1:p.Gln247LysfsTer5
NM_001318138.1:c.739del (HP)	NP_001305067.1:p.Gln247LysfsTer5
NM_005143.4:c.916del (HP)	NP_005134.1:p.Gln306LysfsTer5
XM_017023377.2:c.285-16227del (TXNL4B)	XP_016878866.1:n.285-16227del
NM_001318138.2:c.739del (HP)	NP_001305067.1:p.Gln247LysfsTer5
NM_005143.5:c.916del (HP) MANE Select	NP_005134.1:p.Gln306LysfsTer5
NM_001126102.3:c.739del (HP)	NP_001119574.1:p.Gln247LysfsTer5