Canonical Allele Identifier: CA2697558499
Community Standard Title: NM_012330.4(KAT6B):c.5831del (p.Tyr1944LeufsTer7)
Gene: KAT6B HGNC NCBI
DUSP29 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.75030655del , CM000672.2:g.75030655del GRCh38
NC_000010.10:g.76790413del , CM000672.1:g.76790413del GRCh37
NC_000010.9:g.76460419del NCBI36
NG_032048.1:g.209243del

Transcript Alleles

HGVS Amino-acid Change
NM_012330.4:c.5831del (KAT6B) MANE Select NP_036462.2:p.Tyr1944LeufsTer7
ENST00000287239.10:c.5831del (KAT6B) MANE Select ENSP00000287239.4:p.Tyr1944LeufsTer7
NM_001256468.1:c.5282del (KAT6B) NP_001243397.1:p.Tyr1761LeufsTer7
NM_001256468.2:c.5282del (KAT6B) NP_001243397.1:p.Tyr1761LeufsTer7
NM_001256469.1:c.4955del (KAT6B) NP_001243398.1:p.Tyr1652LeufsTer7
NM_001256469.2:c.4955del (KAT6B) NP_001243398.1:p.Tyr1652LeufsTer7
NM_001370132.1:c.4793del (KAT6B) NP_001357061.1:p.Tyr1598LeufsTer7
NM_001370133.1:c.4142del (KAT6B) NP_001357062.1:p.Tyr1381LeufsTer7
NM_001370134.1:c.3746del (KAT6B) NP_001357063.1:p.Tyr1249LeufsTer7
NM_001370135.1:c.3488del (KAT6B) NP_001357064.1:p.Tyr1163LeufsTer7
NM_001370136.1:c.5831del (KAT6B) NP_001357065.1:p.Tyr1944LeufsTer7
NM_001370137.1:c.5831del (KAT6B) NP_001357066.1:p.Tyr1944LeufsTer7
NM_001370138.1:c.5282del (KAT6B) NP_001357067.1:p.Tyr1761LeufsTer7
NM_001370139.1:c.4955del (KAT6B) NP_001357068.1:p.Tyr1652LeufsTer7
NM_001370140.1:c.4955del (KAT6B) NP_001357069.1:p.Tyr1652LeufsTer7
NM_001370141.1:c.4955del (KAT6B) NP_001357070.1:p.Tyr1652LeufsTer7
NM_001370142.1:c.4955del (KAT6B) NP_001357071.1:p.Tyr1652LeufsTer7
NM_001370143.1:c.4766del (KAT6B) NP_001357072.1:p.Tyr1589LeufsTer7
NM_001370144.1:c.4766del (KAT6B) NP_001357073.1:p.Tyr1589LeufsTer7
NM_012330.3:c.5831del (KAT6B) NP_036462.2:p.Tyr1944LeufsTer7
ENST00000287239.8:c.5831del (KAT6B) ENSP00000287239.4:p.Tyr1944LeufsTer7
ENST00000372711.1:c.5282del (KAT6B) ENSP00000361796.1:p.Tyr1761LeufsTer7
ENST00000372711.2:c.5282del (KAT6B) ENSP00000361796.1:p.Tyr1761LeufsTer7
ENST00000372714.5:c.4955del (KAT6B) ENSP00000361799.1:p.Tyr1652LeufsTer7
ENST00000372714.6:c.4955del (KAT6B) ENSP00000361799.1:p.Tyr1652LeufsTer7
ENST00000372724.5:c.4955del (KAT6B) ENSP00000361809.1:p.Tyr1652LeufsTer7
ENST00000372724.6:c.5282del (KAT6B) ENSP00000361809.2:p.Tyr1761LeufsTer7
ENST00000372725.5:c.4955del (KAT6B) ENSP00000361810.1:p.Tyr1652LeufsTer7
ENST00000372725.6:c.4955del (KAT6B) ENSP00000361810.1:p.Tyr1652LeufsTer7
ENST00000648725.1:c.5831del (KAT6B) ENSP00000497841.1:p.Tyr1944LeufsTer7
ENST00000648892.1:c.4955del (KAT6B) ENSP00000497048.1:p.Tyr1652LeufsTer7
ENST00000649006.1:c.4955del (KAT6B) ENSP00000498139.1:p.Tyr1652LeufsTer7
ENST00000649463.1:c.5831del (KAT6B) ENSP00000497166.1:p.Tyr1944LeufsTer7
XM_005269664.2:c.5831del (KAT6B) XP_005269721.1:p.Tyr1944LeufsTer7
XM_011539747.2:c.*3621+3560del (DUSP29) XP_011538049.1:n.*3621+3560del
XM_017016000.2:c.5831del (KAT6B) XP_016871489.1:p.Tyr1944LeufsTer7
XM_017016002.1:c.5831del (KAT6B) XP_016871491.1:p.Tyr1944LeufsTer7
XM_017016003.1:c.5831del (KAT6B) XP_016871492.1:p.Tyr1944LeufsTer7
XM_017016004.2:c.5669del (KAT6B) XP_016871493.1:p.Tyr1890LeufsTer7
XM_017016005.2:c.5282del (KAT6B) XP_016871494.1:p.Tyr1761LeufsTer7
XM_017016006.2:c.4955del (KAT6B) XP_016871495.1:p.Tyr1652LeufsTer7
XM_017016008.2:c.4955del (KAT6B) XP_016871497.1:p.Tyr1652LeufsTer7
XM_017016009.1:c.4793del (KAT6B) XP_016871498.1:p.Tyr1598LeufsTer7
XR_946064.1:n.576+3560del