Canonical Allele Identifier: CA2573051464
Gene: KDM5B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.202729998del , CM000663.2:g.202729998del GRCh38
NC_000001.10:g.202699126del , CM000663.1:g.202699126del GRCh37
NC_000001.9:g.200965749del NCBI36
NG_050659.1:g.84411del

Transcript Alleles

HGVS Amino-acid Change
NM_006618.5:c.4207del MANE Select NP_006609.3:p.Ile1403LeufsTer8
ENST00000367265.9:c.4207del MANE Select ENSP00000356234.3:p.Ile1403LeufsTer8
NM_001314042.1:c.4315del NP_001300971.1:p.Ile1439LeufsTer8
NM_001314042.2:c.4315del NP_001300971.1:p.Ile1439LeufsTer8
NM_001347591.1:c.4072del NP_001334520.1:p.Ile1358LeufsTer8
NM_001347591.2:c.4072del NP_001334520.1:p.Ile1358LeufsTer8
NM_001399817.1:c.4192del NP_001386746.1:p.Ile1398LeufsTer8
NM_006618.3:c.4207del NP_006609.3:p.Ile1403LeufsTer8
NM_006618.4:c.4207del NP_006609.3:p.Ile1403LeufsTer8
ENST00000235790.8:c.3733del ENSP00000235790.4:p.Ile1245LeufsTer8
ENST00000235790.9:c.3733del ENSP00000235790.4:p.Ile1245LeufsTer8
ENST00000367264.6:c.4315del ENSP00000356233.2:p.Ile1439LeufsTer8
ENST00000367264.7:c.4315del ENSP00000356233.2:p.Ile1439LeufsTer8
ENST00000367265.7:c.4207del ENSP00000356234.3:p.Ile1403LeufsTer8
ENST00000472822.5:n.967del
ENST00000472822.6:n.1213del
ENST00000491153.1:n.500del
ENST00000491153.2:n.1179del
ENST00000498276.2:n.2293del
ENST00000647657.1:n.1170del
ENST00000647747.1:n.1206del
ENST00000647757.1:n.4093del
ENST00000648056.1:c.4192del ENSP00000497113.1:p.Ile1398LeufsTer8
ENST00000648338.1:c.4207del ENSP00000497564.1:p.Ile1403LeufsTer8
ENST00000648469.1:c.4084del ENSP00000497827.1:p.Ile1362LeufsTer8
ENST00000648473.1:c.4207del ENSP00000497743.1:p.Ile1403LeufsTer8
ENST00000649089.1:c.2251del
ENST00000649230.1:n.3433del
ENST00000649339.1:n.548del
ENST00000649400.1:n.2703del
ENST00000649542.1:n.4090del
ENST00000649770.1:c.4084del ENSP00000497288.1:p.Ile1362LeufsTer8
ENST00000650417.1:c.*3633del ENSP00000497297.1:n.*3633del
ENST00000650506.1:n.3844del
ENST00000650569.1:c.4072del ENSP00000497671.1:p.Ile1358LeufsTer8
XM_011509087.1:c.4315del XP_011507389.1:p.Ile1439LeufsTer8
XM_011509088.1:c.4072del XP_011507390.1:p.Ile1358LeufsTer8
XM_011509089.1:c.4234del XP_011507391.1:p.Ile1412LeufsTer8
XM_011509090.1:c.3841del XP_011507392.1:p.Ile1281LeufsTer8
XM_011509090.3:c.3841del XP_011507392.1:p.Ile1281LeufsTer8
XM_011509091.1:c.3841del XP_011507393.1:p.Ile1281LeufsTer8
XM_011509091.2:c.3841del XP_011507393.1:p.Ile1281LeufsTer8
XM_011509092.1:c.3733del XP_011507394.1:p.Ile1245LeufsTer8
XM_011509092.2:c.3733del XP_011507394.1:p.Ile1245LeufsTer8