Canonical Allele Identifier: CA2231555261

Gene: HP TXNL4B

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060429_72060432delinsCAGA , CM000678.2:g.72060429_72060432delinsCAGA	GRCh38
NC_000016.9:g.72094328_72094331delinsCAGA , CM000678.1:g.72094328_72094331delinsCAGA	GRCh37
NC_000016.8:g.70651829_70651832delinsCAGA	NCBI36
NG_012651.1:g.10821_10824delinsCAGA
NG_030311.1:g.2204_2207delinsCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.760_763delinsCAGA (HP) MANE Select	ENSP00000348170.5:p.Gln254=
ENST00000228226.12:c.385_388delinsCAGA (HP)	ENSP00000228226.9:p.Gln129=
ENST00000355906.9:c.760_763delinsCAGA (HP)	ENSP00000348170.5:p.Gln254=
ENST00000357763.8:c.868_871delinsCAGA (HP)	ENSP00000350406.5:p.Gln290=
ENST00000398131.6:c.583_586delinsCAGA (HP)	ENSP00000381199.2:p.Gln195=
ENST00000562153.5:c.285-16075_285-16072delinsTCTG (TXNL4B)	ENSP00000454635.1:n.285-16075_285-16072delinsTCTG
ENST00000562526.5:c.266-234_266-231delinsCAGA (HP)	ENSP00000454413.1:n.266-234_266-231delinsCAGA
ENST00000564499.5:c.463_466delinsCAGA (HP)	ENSP00000456503.1:p.Gln155=
ENST00000565574.5:c.583_586delinsCAGA (HP)	ENSP00000454966.1:p.Gln195=
ENST00000566821.1:n.2399_2402delinsCAGA (HP)
ENST00000567185.7:c.752_755delinsCAGA (HP)
ENST00000567612.2:c.635_638delinsCAGA (HP)
ENST00000570083.5:c.583_586delinsCAGA (HP)	ENSP00000457629.1:p.Gln195=
ENST00000613898.1:c.385_388delinsCAGA (HP)	ENSP00000478279.1:p.Gln129=
NM_001126102.1:c.583_586delinsCAGA (HP)	NP_001119574.1:p.Gln195=
NM_005143.3:c.760_763delinsCAGA (HP)	NP_005134.1:p.Gln254=
XM_005255922.3:c.583_586delinsCAGA (HP)	XP_005255979.2:p.Gln195=
NM_001126102.2:c.583_586delinsCAGA (HP)	NP_001119574.1:p.Gln195=
NM_001318138.1:c.583_586delinsCAGA (HP)	NP_001305067.1:p.Gln195=
NM_005143.4:c.760_763delinsCAGA (HP)	NP_005134.1:p.Gln254=
XM_017023377.2:c.285-16075_285-16072delinsTCTG (TXNL4B)	XP_016878866.1:n.285-16075_285-16072delinsTCTG
NM_001318138.2:c.583_586delinsCAGA (HP)	NP_001305067.1:p.Gln195=
NM_005143.5:c.760_763delinsCAGA (HP) MANE Select	NP_005134.1:p.Gln254=
NM_001126102.3:c.583_586delinsCAGA (HP)	NP_001119574.1:p.Gln195=