Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.72060157_72060158delinsTG , CM000678.2:g.72060157_72060158delinsTG	GRCh38
NC_000016.9:g.72094056_72094057delinsTG , CM000678.1:g.72094056_72094057delinsTG	GRCh37
NC_000016.8:g.70651557_70651558delinsTG	NCBI36
NG_012651.1:g.10549_10550delinsTG
NG_030311.1:g.1932_1933delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355906.10:c.488_489delinsTG (HP) MANE Select	ENSP00000348170.5:p.Leu163=
ENST00000228226.12:c.113_114delinsTG (HP)	ENSP00000228226.9:p.Leu38=
ENST00000355906.9:c.488_489delinsTG (HP)	ENSP00000348170.5:p.Leu163=
ENST00000357763.8:c.596_597delinsTG (HP)	ENSP00000350406.5:p.Leu199=
ENST00000398131.6:c.311_312delinsTG (HP)	ENSP00000381199.2:p.Leu104=
ENST00000562153.5:c.285-15801_285-15800delinsCA (TXNL4B)	ENSP00000454635.1:n.285-15801_285-15800delinsCA
ENST00000562526.5:c.266-506_266-505delinsTG (HP)	ENSP00000454413.1:n.266-506_266-505delinsTG
ENST00000564499.5:c.266-75_266-74delinsTG (HP)	ENSP00000456503.1:n.266-75_266-74delinsTG
ENST00000565574.5:c.311_312delinsTG (HP)	ENSP00000454966.1:p.Leu104=
ENST00000566821.1:n.2127_2128delinsTG (HP)
ENST00000567185.7:c.480_481delinsTG (HP)
ENST00000567612.2:c.438-75_438-74delinsTG (HP)
ENST00000570083.5:c.311_312delinsTG (HP)	ENSP00000457629.1:p.Leu104=
ENST00000613898.1:c.113_114delinsTG (HP)	ENSP00000478279.1:p.Leu38=
NM_001126102.1:c.311_312delinsTG (HP)	NP_001119574.1:p.Leu104=
NM_005143.3:c.488_489delinsTG (HP)	NP_005134.1:p.Leu163=
XM_005255922.3:c.311_312delinsTG (HP)	XP_005255979.2:p.Leu104=
NM_001126102.2:c.311_312delinsTG (HP)	NP_001119574.1:p.Leu104=
NM_001318138.1:c.311_312delinsTG (HP)	NP_001305067.1:p.Leu104=
NM_005143.4:c.488_489delinsTG (HP)	NP_005134.1:p.Leu163=
XM_017023377.2:c.285-15801_285-15800delinsCA (TXNL4B)	XP_016878866.1:n.285-15801_285-15800delinsCA
NM_001318138.2:c.311_312delinsTG (HP)	NP_001305067.1:p.Leu104=
NM_005143.5:c.488_489delinsTG (HP) MANE Select	NP_005134.1:p.Leu163=
NM_001126102.3:c.311_312delinsTG (HP)	NP_001119574.1:p.Leu104=