Canonical Allele Identifier: CA2576057048

Gene: HP TXNL4B

Linked Data

• gnomAD v4: 16-72060194-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060195del , CM000678.2:g.72060195del	GRCh38
NC_000016.9:g.72094094del , CM000678.1:g.72094094del	GRCh37
NC_000016.8:g.70651595del	NCBI36
NG_012651.1:g.10587del
NG_030311.1:g.1970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.526del (HP) MANE Select	ENSP00000348170.5:p.Gln176ArgfsTer16
ENST00000228226.12:c.151del (HP)	ENSP00000228226.9:p.Gln51ArgfsTer16
ENST00000355906.9:c.526del (HP)	ENSP00000348170.5:p.Gln176ArgfsTer16
ENST00000357763.8:c.634del (HP)	ENSP00000350406.5:p.Gln212ArgfsTer16
ENST00000398131.6:c.349del (HP)	ENSP00000381199.2:p.Gln117ArgfsTer16
ENST00000562153.5:c.285-15838del (TXNL4B)	ENSP00000454635.1:n.285-15838del
ENST00000562526.5:c.266-468del (HP)	ENSP00000454413.1:n.266-468del
ENST00000564499.5:c.266-37del (HP)	ENSP00000456503.1:n.266-37del
ENST00000565574.5:c.349del (HP)	ENSP00000454966.1:p.Gln117ArgfsTer16
ENST00000566821.1:n.2165del (HP)
ENST00000567185.7:c.518del (HP)
ENST00000567612.2:c.438-37del (HP)
ENST00000570083.5:c.349del (HP)	ENSP00000457629.1:p.Gln117ArgfsTer16
ENST00000613898.1:c.151del (HP)	ENSP00000478279.1:p.Gln51ArgfsTer16
NM_001126102.1:c.349del (HP)	NP_001119574.1:p.Gln117ArgfsTer16
NM_005143.3:c.526del (HP)	NP_005134.1:p.Gln176ArgfsTer16
XM_005255922.3:c.349del (HP)	XP_005255979.2:p.Gln117ArgfsTer16
NM_001126102.2:c.349del (HP)	NP_001119574.1:p.Gln117ArgfsTer16
NM_001318138.1:c.349del (HP)	NP_001305067.1:p.Gln117ArgfsTer16
NM_005143.4:c.526del (HP)	NP_005134.1:p.Gln176ArgfsTer16
XM_017023377.2:c.285-15838del (TXNL4B)	XP_016878866.1:n.285-15838del
NM_001318138.2:c.349del (HP)	NP_001305067.1:p.Gln117ArgfsTer16
NM_005143.5:c.526del (HP) MANE Select	NP_005134.1:p.Gln176ArgfsTer16
NM_001126102.3:c.349del (HP)	NP_001119574.1:p.Gln117ArgfsTer16