Canonical Allele Identifier: CA2231555133

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.72060163_72060167delinsGACAC , CM000678.2:g.72060163_72060167delinsGACAC GRCh38
NC_000016.9:g.72094062_72094066delinsGACAC , CM000678.1:g.72094062_72094066delinsGACAC GRCh37
NC_000016.8:g.70651563_70651567delinsGACAC NCBI36
NG_012651.1:g.10555_10559delinsGACAC
NG_030311.1:g.1938_1942delinsGACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000355906.10:c.494_498delinsGACAC (HP) MANE Select ENSP00000348170.5:p.Gly165=
ENST00000228226.12:c.119_123delinsGACAC (HP) ENSP00000228226.9:p.Gly40=
ENST00000355906.9:c.494_498delinsGACAC (HP) ENSP00000348170.5:p.Gly165=
ENST00000357763.8:c.602_606delinsGACAC (HP) ENSP00000350406.5:p.Gly201=
ENST00000398131.6:c.317_321delinsGACAC (HP) ENSP00000381199.2:p.Gly106=
ENST00000562153.5:c.285-15810_285-15806delinsGTGTC (TXNL4B) ENSP00000454635.1:n.285-15810_285-15806delinsGTGTC
ENST00000562526.5:c.266-500_266-496delinsGACAC (HP) ENSP00000454413.1:n.266-500_266-496delinsGACAC
ENST00000564499.5:c.266-69_266-65delinsGACAC (HP) ENSP00000456503.1:n.266-69_266-65delinsGACAC
ENST00000565574.5:c.317_321delinsGACAC (HP) ENSP00000454966.1:p.Gly106=
ENST00000566821.1:n.2133_2137delinsGACAC (HP)
ENST00000567185.7:c.486_490delinsGACAC (HP)
ENST00000567612.2:c.438-69_438-65delinsGACAC (HP)
ENST00000570083.5:c.317_321delinsGACAC (HP) ENSP00000457629.1:p.Gly106=
ENST00000613898.1:c.119_123delinsGACAC (HP) ENSP00000478279.1:p.Gly40=
NM_001126102.1:c.317_321delinsGACAC (HP) NP_001119574.1:p.Gly106=
NM_005143.3:c.494_498delinsGACAC (HP) NP_005134.1:p.Gly165=
XM_005255922.3:c.317_321delinsGACAC (HP) XP_005255979.2:p.Gly106=
NM_001126102.2:c.317_321delinsGACAC (HP) NP_001119574.1:p.Gly106=
NM_001318138.1:c.317_321delinsGACAC (HP) NP_001305067.1:p.Gly106=
NM_005143.4:c.494_498delinsGACAC (HP) NP_005134.1:p.Gly165=
XM_017023377.2:c.285-15810_285-15806delinsGTGTC (TXNL4B) XP_016878866.1:n.285-15810_285-15806delinsGTGTC
NM_001318138.2:c.317_321delinsGACAC (HP) NP_001305067.1:p.Gly106=
NM_005143.5:c.494_498delinsGACAC (HP) MANE Select NP_005134.1:p.Gly165=
NM_001126102.3:c.317_321delinsGACAC (HP) NP_001119574.1:p.Gly106=