Canonical Allele Identifier: CA723543007

Gene: HP TXNL4B

Linked Data

• dbSNP Id: rs1210274463
• MyVariant Identifiers: chr16:g.72094059_72094060insTGGACACCTGGA (hg19) ; chr16:g.72060160_72060161insTGGACACCTGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060163_72060174dup , CM000678.2:g.72060163_72060174dup	GRCh38
NC_000016.9:g.72094062_72094073dup , CM000678.1:g.72094062_72094073dup	GRCh37
NC_000016.8:g.70651563_70651574dup	NCBI36
NG_012651.1:g.10555_10566dup
NG_030311.1:g.1938_1949dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.494_505dup (HP) MANE Select	ENSP00000348170.5:p.Asp168_Ala169insGlyHisLeuAsp
ENST00000228226.12:c.119_130dup (HP)	ENSP00000228226.9:p.Asp43_Ala44insGlyHisLeuAsp
ENST00000355906.9:c.494_505dup (HP)	ENSP00000348170.5:p.Asp168_Ala169insGlyHisLeuAsp
ENST00000357763.8:c.602_613dup (HP)	ENSP00000350406.5:p.Asp204_Ala205insGlyHisLeuAsp
ENST00000398131.6:c.317_328dup (HP)	ENSP00000381199.2:p.Asp109_Ala110insGlyHisLeuAsp
ENST00000562153.5:c.285-15815_285-15804dup (TXNL4B)	ENSP00000454635.1:n.285-15815_285-15804dup
ENST00000562526.5:c.266-500_266-489dup (HP)	ENSP00000454413.1:n.266-500_266-489dup
ENST00000564499.5:c.266-69_266-58dup (HP)	ENSP00000456503.1:n.266-69_266-58dup
ENST00000565574.5:c.317_328dup (HP)	ENSP00000454966.1:p.Asp109_Ala110insGlyHisLeuAsp
ENST00000566821.1:n.2133_2144dup (HP)
ENST00000567185.7:c.486_497dup (HP)
ENST00000567612.2:c.438-69_438-58dup (HP)
ENST00000570083.5:c.317_328dup (HP)	ENSP00000457629.1:p.Asp109_Ala110insGlyHisLeuAsp
ENST00000613898.1:c.119_130dup (HP)	ENSP00000478279.1:p.Asp43_Ala44insGlyHisLeuAsp
NM_001126102.1:c.317_328dup (HP)	NP_001119574.1:p.Asp109_Ala110insGlyHisLeuAsp
NM_005143.3:c.494_505dup (HP)	NP_005134.1:p.Asp168_Ala169insGlyHisLeuAsp
XM_005255922.3:c.317_328dup (HP)	XP_005255979.2:p.Asp109_Ala110insGlyHisLeuAsp
NM_001126102.2:c.317_328dup (HP)	NP_001119574.1:p.Asp109_Ala110insGlyHisLeuAsp
NM_001318138.1:c.317_328dup (HP)	NP_001305067.1:p.Asp109_Ala110insGlyHisLeuAsp
NM_005143.4:c.494_505dup (HP)	NP_005134.1:p.Asp168_Ala169insGlyHisLeuAsp
XM_017023377.2:c.285-15815_285-15804dup (TXNL4B)	XP_016878866.1:n.285-15815_285-15804dup
NM_001318138.2:c.317_328dup (HP)	NP_001305067.1:p.Asp109_Ala110insGlyHisLeuAsp
NM_005143.5:c.494_505dup (HP) MANE Select	NP_005134.1:p.Asp168_Ala169insGlyHisLeuAsp
NM_001126102.3:c.317_328dup (HP)	NP_001119574.1:p.Asp109_Ala110insGlyHisLeuAsp