Canonical Allele Identifier: CA2231555229

Gene: HP TXNL4B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060369_72060372delinsGAGA , CM000678.2:g.72060369_72060372delinsGAGA	GRCh38
NC_000016.9:g.72094268_72094271delinsGAGA , CM000678.1:g.72094268_72094271delinsGAGA	GRCh37
NC_000016.8:g.70651769_70651772delinsGAGA	NCBI36
NG_012651.1:g.10761_10764delinsGAGA
NG_030311.1:g.2144_2147delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.700_703delinsGAGA (HP) MANE Select	ENSP00000348170.5:p.Glu234=
ENST00000228226.12:c.325_328delinsGAGA (HP)	ENSP00000228226.9:p.Glu109=
ENST00000355906.9:c.700_703delinsGAGA (HP)	ENSP00000348170.5:p.Glu234=
ENST00000357763.8:c.808_811delinsGAGA (HP)	ENSP00000350406.5:p.Glu270=
ENST00000398131.6:c.523_526delinsGAGA (HP)	ENSP00000381199.2:p.Glu175=
ENST00000562153.5:c.285-16015_285-16012delinsTCTC (TXNL4B)	ENSP00000454635.1:n.285-16015_285-16012delinsTCTC
ENST00000562526.5:c.266-294_266-291delinsGAGA (HP)	ENSP00000454413.1:n.266-294_266-291delinsGAGA
ENST00000564499.5:c.403_406delinsGAGA (HP)	ENSP00000456503.1:p.Glu135=
ENST00000565574.5:c.523_526delinsGAGA (HP)	ENSP00000454966.1:p.Glu175=
ENST00000566821.1:n.2339_2342delinsGAGA (HP)
ENST00000567185.7:c.692_695delinsGAGA (HP)
ENST00000567612.2:c.575_578delinsGAGA (HP)
ENST00000570083.5:c.523_526delinsGAGA (HP)	ENSP00000457629.1:p.Glu175=
ENST00000613898.1:c.325_328delinsGAGA (HP)	ENSP00000478279.1:p.Glu109=
NM_001126102.1:c.523_526delinsGAGA (HP)	NP_001119574.1:p.Glu175=
NM_005143.3:c.700_703delinsGAGA (HP)	NP_005134.1:p.Glu234=
XM_005255922.3:c.523_526delinsGAGA (HP)	XP_005255979.2:p.Glu175=
NM_001126102.2:c.523_526delinsGAGA (HP)	NP_001119574.1:p.Glu175=
NM_001318138.1:c.523_526delinsGAGA (HP)	NP_001305067.1:p.Glu175=
NM_005143.4:c.700_703delinsGAGA (HP)	NP_005134.1:p.Glu234=
XM_017023377.2:c.285-16015_285-16012delinsTCTC (TXNL4B)	XP_016878866.1:n.285-16015_285-16012delinsTCTC
NM_001318138.2:c.523_526delinsGAGA (HP)	NP_001305067.1:p.Glu175=
NM_005143.5:c.700_703delinsGAGA (HP) MANE Select	NP_005134.1:p.Glu234=
NM_001126102.3:c.523_526delinsGAGA (HP)	NP_001119574.1:p.Glu175=