Canonical Allele Identifier: CA2231555216

Gene: HP TXNL4B

Linked Data

• dbSNP Id: rs2041523126
• gnomAD v3: 16-72060343-TG-T
• gnomAD v4: 16-72060343-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060347del , CM000678.2:g.72060347del	GRCh38
NC_000016.9:g.72094246del , CM000678.1:g.72094246del	GRCh37
NC_000016.8:g.70651747del	NCBI36
NG_012651.1:g.10739del
NG_030311.1:g.2122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.678del (HP) MANE Select	ENSP00000348170.5:p.Lys228SerfsTer4
ENST00000228226.12:c.303del (HP)	ENSP00000228226.9:p.Lys103SerfsTer4
ENST00000355906.9:c.678del (HP)	ENSP00000348170.5:p.Lys228SerfsTer4
ENST00000357763.8:c.786del (HP)	ENSP00000350406.5:p.Lys264SerfsTer4
ENST00000398131.6:c.501del (HP)	ENSP00000381199.2:p.Lys169SerfsTer4
ENST00000562153.5:c.285-15987del (TXNL4B)	ENSP00000454635.1:n.285-15987del
ENST00000562526.5:c.266-316del (HP)	ENSP00000454413.1:n.266-316del
ENST00000564499.5:c.381del (HP)	ENSP00000456503.1:p.Lys129SerfsTer4
ENST00000565574.5:c.501del (HP)	ENSP00000454966.1:p.Lys169SerfsTer4
ENST00000566821.1:n.2317del (HP)
ENST00000567185.7:c.670del (HP)
ENST00000567612.2:c.553del (HP)
ENST00000570083.5:c.501del (HP)	ENSP00000457629.1:p.Lys169SerfsTer4
ENST00000613898.1:c.303del (HP)	ENSP00000478279.1:p.Lys103SerfsTer4
NM_001126102.1:c.501del (HP)	NP_001119574.1:p.Lys169SerfsTer4
NM_005143.3:c.678del (HP)	NP_005134.1:p.Lys228SerfsTer4
XM_005255922.3:c.501del (HP)	XP_005255979.2:p.Lys169SerfsTer4
NM_001126102.2:c.501del (HP)	NP_001119574.1:p.Lys169SerfsTer4
NM_001318138.1:c.501del (HP)	NP_001305067.1:p.Lys169SerfsTer4
NM_005143.4:c.678del (HP)	NP_005134.1:p.Lys228SerfsTer4
XM_017023377.2:c.285-15987del (TXNL4B)	XP_016878866.1:n.285-15987del
NM_001318138.2:c.501del (HP)	NP_001305067.1:p.Lys169SerfsTer4
NM_005143.5:c.678del (HP) MANE Select	NP_005134.1:p.Lys228SerfsTer4
NM_001126102.3:c.501del (HP)	NP_001119574.1:p.Lys169SerfsTer4