Canonical Allele Identifier: CA1011300208

Gene: KDM5B

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.202755356del , CM000663.2:g.202755356del	GRCh38
NC_000001.10:g.202724484del , CM000663.1:g.202724484del	GRCh37
NC_000001.9:g.200991107del	NCBI36
NG_050659.1:g.59053del

Transcript Alleles

HGVS	Amino-acid Change
NM_006618.5:c.1454del MANE Select	NP_006609.3:p.Pro485LeufsTer?
ENST00000367265.9:c.1454del MANE Select	ENSP00000356234.3:p.Pro485LeufsTer?
NM_001314042.1:c.1562del	NP_001300971.1:p.Pro521LeufsTer?
NM_001314042.2:c.1562del	NP_001300971.1:p.Pro521LeufsTer?
NM_001347591.1:c.1319del	NP_001334520.1:p.Pro440LeufsTer?
NM_001347591.2:c.1319del	NP_001334520.1:p.Pro440LeufsTer?
NM_001399817.1:c.1439del	NP_001386746.1:p.Pro480LeufsTer?
NM_006618.3:c.1454del	NP_006609.3:p.Pro485LeufsTer?
NM_006618.4:c.1454del	NP_006609.3:p.Pro485LeufsTer?
ENST00000235790.8:c.980del	ENSP00000235790.4:p.Pro327LeufsTer?
ENST00000235790.9:c.980del	ENSP00000235790.4:p.Pro327LeufsTer?
ENST00000367264.6:c.1562del	ENSP00000356233.2:p.Pro521LeufsTer?
ENST00000367264.7:c.1562del	ENSP00000356233.2:p.Pro521LeufsTer?
ENST00000367265.7:c.1454del	ENSP00000356234.3:p.Pro485LeufsTer?
ENST00000456180.1:n.450del
ENST00000456180.2:n.453del
ENST00000647754.1:n.1191del
ENST00000647757.1:n.1340del
ENST00000648056.1:c.1439del	ENSP00000497113.1:p.Pro480LeufsTer?
ENST00000648338.1:c.1454del	ENSP00000497564.1:p.Pro485LeufsTer?
ENST00000648469.1:c.1331del	ENSP00000497827.1:p.Pro444LeufsTer?
ENST00000648473.1:c.1454del	ENSP00000497743.1:p.Pro485LeufsTer?
ENST00000649321.1:n.783del
ENST00000649542.1:n.1337del
ENST00000649770.1:c.1331del	ENSP00000497288.1:p.Pro444LeufsTer?
ENST00000649929.1:c.16del
ENST00000650417.1:c.*880del	ENSP00000497297.1:n.*880del
ENST00000650422.1:n.1737del
ENST00000650569.1:c.1319del	ENSP00000497671.1:p.Pro440LeufsTer?
XM_011509087.1:c.1562del	XP_011507389.1:p.Pro521LeufsTer?
XM_011509088.1:c.1319del	XP_011507390.1:p.Pro440LeufsTer?
XM_011509089.1:c.1481del	XP_011507391.1:p.Pro494LeufsTer?
XM_011509090.1:c.1088del	XP_011507392.1:p.Pro363LeufsTer?
XM_011509090.3:c.1088del	XP_011507392.1:p.Pro363LeufsTer?
XM_011509091.1:c.1088del	XP_011507393.1:p.Pro363LeufsTer?
XM_011509091.2:c.1088del	XP_011507393.1:p.Pro363LeufsTer?
XM_011509092.1:c.980del	XP_011507394.1:p.Pro327LeufsTer?
XM_011509092.2:c.980del	XP_011507394.1:p.Pro327LeufsTer?