Canonical Allele Identifier: CA645614548

Gene: KDM5C

Linked Data

• COSMIC: COSM1665536 ; COSM1665537 ; COSM1665538

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53216159_53216162del , CM000685.2:g.53216159_53216162del	GRCh38
NC_000023.10:g.53245341_53245344del , CM000685.1:g.53245341_53245344del	GRCh37
NC_000023.9:g.53262066_53262069del	NCBI36
NG_008085.1:g.14261_14264del
NG_008085.2:g.14261_14264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465402.2:n.1024_1027del
ENST00000685423.1:c.693_696del	ENSP00000508806.1:p.Glu232Ter
ENST00000685539.1:n.1037_1040del
ENST00000685641.1:c.693_696del	ENSP00000509818.1:p.Glu232Ter
ENST00000687695.1:c.690_693del	ENSP00000508631.1:p.Glu231Ter
ENST00000687928.1:n.963_966del
ENST00000688699.1:c.693_696del	ENSP00000510430.1:p.Glu232Ter
ENST00000691505.1:c.693_696del	ENSP00000510354.1:p.Glu232Ter
ENST00000693277.1:c.198_201del	ENSP00000510522.1:p.Glu67Ter
ENST00000375401.8:c.693_696del MANE Select	ENSP00000364550.4:p.Glu232Ter
ENST00000375379.7:c.693_696del	ENSP00000364528.3:p.Glu232Ter
ENST00000375383.7:c.570_573del	ENSP00000364532.3:p.Glu191Ter
ENST00000375401.7:c.693_696del	ENSP00000364550.3:p.Glu232Ter
ENST00000404049.7:c.690_693del	ENSP00000385394.3:p.Glu231Ter
ENST00000452825.7:c.492_495del	ENSP00000445176.1:p.Glu165Ter
ENST00000497995.1:n.43_46del
NM_001146702.1:c.492_495del	NP_001140174.1:p.Glu165Ter
NM_001282622.1:c.690_693del	NP_001269551.1:p.Glu231Ter
NM_004187.3:c.693_696del	NP_004178.2:p.Glu232Ter
XM_005262035.3:c.693_696del	XP_005262092.1:p.Glu232Ter
XM_006724609.2:c.693_696del	XP_006724672.1:p.Glu232Ter
XM_011530824.1:c.693_696del	XP_011529126.1:p.Glu232Ter
XM_011530825.1:c.570_573del	XP_011529127.1:p.Glu191Ter
XM_011530826.1:c.570_573del	XP_011529128.1:p.Glu191Ter
XM_011530827.1:c.693_696del	XP_011529129.1:p.Glu232Ter
XM_011530828.1:c.693_696del	XP_011529130.1:p.Glu232Ter
XM_011530829.1:c.198_201del	XP_011529131.1:p.Glu67Ter
XM_011530830.1:c.198_201del	XP_011529132.1:p.Glu67Ter
XR_938369.1:n.1039_1042del
XR_938370.1:n.1039_1042del
XR_938371.1:n.1039_1042del
XR_938372.1:n.1039_1042del
XR_938373.1:n.1039_1042del
NM_001353978.1:c.693_696del	NP_001340907.1:p.Glu232Ter
NM_001353979.1:c.690_693del	NP_001340908.1:p.Glu231Ter
NM_001353981.1:c.693_696del	NP_001340910.1:p.Glu232Ter
NM_001353982.1:c.690_693del	NP_001340911.1:p.Glu231Ter
NM_001353984.1:c.693_696del	NP_001340913.1:p.Glu232Ter
NR_148672.1:n.1226_1229del
NR_148673.1:n.1223_1226del
NR_148674.1:n.1103_1106del
XM_011530824.3:c.693_696del	XP_011529126.1:p.Glu232Ter
XM_011530825.3:c.570_573del	XP_011529127.1:p.Glu191Ter
XM_011530826.3:c.570_573del	XP_011529128.1:p.Glu191Ter
XM_011530827.3:c.693_696del	XP_011529129.1:p.Glu232Ter
XM_011530828.2:c.693_696del	XP_011529130.1:p.Glu232Ter
XM_011530829.2:c.198_201del	XP_011529131.1:p.Glu67Ter
XM_011530830.2:c.198_201del	XP_011529132.1:p.Glu67Ter
XM_024452466.1:c.690_693del	XP_024308234.1:p.Glu231Ter
XR_001755735.2:n.1019_1022del
XR_001755736.2:n.1019_1022del
XR_001755737.2:n.1019_1022del
XR_938370.3:n.1019_1022del
NM_001146702.2:c.492_495del	NP_001140174.1:p.Glu165Ter
NM_001282622.3:c.690_693del	NP_001269551.1:p.Glu231Ter
NM_001353978.3:c.693_696del	NP_001340907.1:p.Glu232Ter
NM_001353979.2:c.690_693del	NP_001340908.1:p.Glu231Ter
NM_001353981.2:c.693_696del	NP_001340910.1:p.Glu232Ter
NM_001353982.2:c.690_693del	NP_001340911.1:p.Glu231Ter
NM_004187.5:c.693_696del MANE Select	NP_004178.2:p.Glu232Ter
NR_148672.2:n.1011_1014del
NR_148673.2:n.1008_1011del
NR_148674.2:n.888_891del
NM_001353984.2:c.693_696del	NP_001340913.1:p.Glu232Ter