Canonical Allele Identifier: CA16043264
Gene: KDM5C HGNC NCBI

Linked Data

ClinVar Variation Id: 373050
ClinVar RCV Id: RCV000413725
dbSNP Id: rs1057518172

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53194965dup , CM000685.2:g.53194965dup GRCh38
NC_000023.10:g.53224147dup , CM000685.1:g.53224147dup GRCh37
NC_000023.9:g.53240872dup NCBI36
NG_008085.1:g.35458dup
NG_008085.2:g.35458dup

Transcript Alleles

HGVS Amino-acid change
ENST00000685423.1:c.3404dup ENSP00000508806.1:p.Ser1136ValfsTer?
ENST00000685641.1:c.3404dup ENSP00000509818.1:p.Ser1136ValfsTer?
ENST00000687695.1:c.3401dup ENSP00000508631.1:p.Ser1135ValfsTer?
ENST00000688699.1:c.3404dup ENSP00000510430.1:p.Ser1136ValfsTer?
ENST00000691505.1:c.3404dup ENSP00000510354.1:p.Ser1136ValfsTer?
ENST00000693277.1:c.2909dup ENSP00000510522.1:p.Ser971ValfsTer?
ENST00000375401.8:c.3404dup MANE Select ENSP00000364550.4:p.Ser1136ValfsTer?
ENST00000375379.7:c.3404dup ENSP00000364528.3:p.Ser1136ValfsTer?
ENST00000375383.7:c.3281dup ENSP00000364532.3:p.Ser1095ValfsTer?
ENST00000375401.7:c.3404dup ENSP00000364550.3:p.Ser1136ValfsTer?
ENST00000404049.7:c.3401dup ENSP00000385394.3:p.Ser1135ValfsTer?
ENST00000452825.7:c.3203dup ENSP00000445176.1:p.Ser1069ValfsTer?
NM_001146702.1:c.3203dup NP_001140174.1:p.Ser1069ValfsTer?
NM_001282622.1:c.3401dup NP_001269551.1:p.Ser1135ValfsTer?
NM_004187.3:c.3404dup NP_004178.2:p.Ser1136ValfsTer?
XM_005262035.3:c.3404dup XP_005262092.1:p.Ser1136ValfsTer?
XM_006724609.2:c.3404dup XP_006724672.1:p.Ser1136ValfsTer?
XM_011530824.1:c.3326dup XP_011529126.1:p.Ser1110ValfsTer?
XM_011530825.1:c.3281dup XP_011529127.1:p.Ser1095ValfsTer?
XM_011530826.1:c.3281dup XP_011529128.1:p.Ser1095ValfsTer?
XM_011530827.1:c.3404dup XP_011529129.1:p.Ser1136ValfsTer?
XM_011530828.1:c.3404dup XP_011529130.1:p.Ser1136ValfsTer?
XM_011530829.1:c.2909dup XP_011529131.1:p.Ser971ValfsTer?
XM_011530830.1:c.2909dup XP_011529132.1:p.Ser971ValfsTer?
XM_011530831.1:c.2420dup XP_011529133.1:p.Ser808ValfsTer?
XR_938369.1:n.3750dup
XR_938370.1:n.3750dup
XR_938371.1:n.3750dup
XR_938372.1:n.3750dup
XR_938373.1:n.3750dup
NM_001353978.1:c.3404dup NP_001340907.1:p.Ser1136ValfsTer?
NM_001353979.1:c.3401dup NP_001340908.1:p.Ser1135ValfsTer?
NM_001353981.1:c.3404dup NP_001340910.1:p.Ser1136ValfsTer?
NM_001353982.1:c.3401dup NP_001340911.1:p.Ser1135ValfsTer?
NM_001353984.1:c.3404dup NP_001340913.1:p.Ser1136ValfsTer?
NR_148672.1:n.3937dup
NR_148673.1:n.3934dup
NR_148674.1:n.3814dup
XM_011530824.3:c.3326dup XP_011529126.1:p.Ser1110ValfsTer?
XM_011530825.3:c.3281dup XP_011529127.1:p.Ser1095ValfsTer?
XM_011530826.3:c.3281dup XP_011529128.1:p.Ser1095ValfsTer?
XM_011530827.3:c.3404dup XP_011529129.1:p.Ser1136ValfsTer?
XM_011530828.2:c.3404dup XP_011529130.1:p.Ser1136ValfsTer?
XM_011530829.2:c.2909dup XP_011529131.1:p.Ser971ValfsTer?
XM_011530830.2:c.2909dup XP_011529132.1:p.Ser971ValfsTer?
XM_011530831.2:c.2420dup XP_011529133.1:p.Ser808ValfsTer?
XM_024452466.1:c.3401dup XP_024308234.1:p.Ser1135ValfsTer?
XR_001755735.2:n.3730dup
XR_001755736.2:n.3730dup
XR_001755737.2:n.3730dup
XR_938370.3:n.3730dup
NM_001146702.2:c.3203dup NP_001140174.1:p.Ser1069ValfsTer?
NM_001282622.3:c.3401dup NP_001269551.1:p.Ser1135ValfsTer?
NM_001353978.3:c.3404dup NP_001340907.1:p.Ser1136ValfsTer?
NM_001353979.2:c.3401dup NP_001340908.1:p.Ser1135ValfsTer?
NM_001353981.2:c.3404dup NP_001340910.1:p.Ser1136ValfsTer?
NM_001353982.2:c.3401dup NP_001340911.1:p.Ser1135ValfsTer?
NM_004187.5:c.3404dup MANE Select NP_004178.2:p.Ser1136ValfsTer?
NR_148672.2:n.3722dup
NR_148673.2:n.3719dup
NR_148674.2:n.3599dup
NM_001353984.2:c.3404dup NP_001340913.1:p.Ser1136ValfsTer?