Canonical Allele Identifier: CA10604823
Gene: KDM5C HGNC NCBI

Linked Data

ClinVar Variation Id: 284507
ClinVar RCV Id: RCV000379085
dbSNP Id: rs1057515581

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53217907_53217908dup , CM000685.2:g.53217907_53217908dup GRCh38
NC_000023.10:g.53247089_53247090dup , CM000685.1:g.53247089_53247090dup GRCh37
NC_000023.9:g.53263814_53263815dup NCBI36
NG_008085.1:g.12515_12516dup
NG_008085.2:g.12515_12516dup

Transcript Alleles

HGVS Amino-acid change
ENST00000465402.2:n.744_745dup
ENST00000685423.1:c.410_411dup ENSP00000508806.1:p.Ala138Ter
ENST00000685539.1:n.754_755dup
ENST00000685641.1:c.410_411dup ENSP00000509818.1:p.Ala138Ter
ENST00000687695.1:c.410_411dup ENSP00000508631.1:p.Ala138Ter
ENST00000687928.1:n.680_681dup
ENST00000688699.1:c.410_411dup ENSP00000510430.1:p.Ala138Ter
ENST00000691505.1:c.410_411dup ENSP00000510354.1:p.Ala138Ter
ENST00000693277.1:c.-86_-85dup ENSP00000510522.1:n.-86_-85dup
ENST00000375401.8:c.410_411dup MANE Select ENSP00000364550.4:p.Ala138Ter
ENST00000375379.7:c.410_411dup ENSP00000364528.3:p.Ala138Ter
ENST00000375383.7:c.287_288dup ENSP00000364532.3:p.Ala97Ter
ENST00000375401.7:c.410_411dup ENSP00000364550.3:p.Ala138Ter
ENST00000404049.7:c.410_411dup ENSP00000385394.3:p.Ala138Ter
ENST00000429877.5:c.*291_*292dup ENSP00000409757.1:n.*291_*292dup
ENST00000452825.7:c.209_210dup ENSP00000445176.1:p.Ala71Ter
ENST00000467093.1:n.391_392dup
ENST00000495519.1:n.521_522dup
NM_001146702.1:c.209_210dup NP_001140174.1:p.Ala71Ter
NM_001282622.1:c.410_411dup NP_001269551.1:p.Ala138Ter
NM_004187.3:c.410_411dup NP_004178.2:p.Ala138Ter
XM_005262035.3:c.410_411dup XP_005262092.1:p.Ala138Ter
XM_006724609.2:c.410_411dup XP_006724672.1:p.Ala138Ter
XM_011530824.1:c.410_411dup XP_011529126.1:p.Ala138Ter
XM_011530825.1:c.287_288dup XP_011529127.1:p.Ala97Ter
XM_011530826.1:c.287_288dup XP_011529128.1:p.Ala97Ter
XM_011530827.1:c.410_411dup XP_011529129.1:p.Ala138Ter
XM_011530828.1:c.410_411dup XP_011529130.1:p.Ala138Ter
XM_011530829.1:c.-86_-85dup XP_011529131.1:n.-86_-85dup
XM_011530830.1:c.-86_-85dup XP_011529132.1:n.-86_-85dup
XR_938369.1:n.756_757dup
XR_938370.1:n.756_757dup
XR_938371.1:n.756_757dup
XR_938372.1:n.756_757dup
XR_938373.1:n.756_757dup
NM_001353978.1:c.410_411dup NP_001340907.1:p.Ala138Ter
NM_001353979.1:c.410_411dup NP_001340908.1:p.Ala138Ter
NM_001353981.1:c.410_411dup NP_001340910.1:p.Ala138Ter
NM_001353982.1:c.410_411dup NP_001340911.1:p.Ala138Ter
NM_001353984.1:c.410_411dup NP_001340913.1:p.Ala138Ter
NR_148672.1:n.943_944dup
NR_148673.1:n.943_944dup
NR_148674.1:n.820_821dup
XM_011530824.3:c.410_411dup XP_011529126.1:p.Ala138Ter
XM_011530825.3:c.287_288dup XP_011529127.1:p.Ala97Ter
XM_011530826.3:c.287_288dup XP_011529128.1:p.Ala97Ter
XM_011530827.3:c.410_411dup XP_011529129.1:p.Ala138Ter
XM_011530828.2:c.410_411dup XP_011529130.1:p.Ala138Ter
XM_011530829.2:c.-86_-85dup XP_011529131.1:n.-86_-85dup
XM_011530830.2:c.-86_-85dup XP_011529132.1:n.-86_-85dup
XM_024452466.1:c.410_411dup XP_024308234.1:p.Ala138Ter
XR_001755735.2:n.736_737dup
XR_001755736.2:n.736_737dup
XR_001755737.2:n.736_737dup
XR_938370.3:n.736_737dup
NM_001146702.2:c.209_210dup NP_001140174.1:p.Ala71Ter
NM_001282622.3:c.410_411dup NP_001269551.1:p.Ala138Ter
NM_001353978.3:c.410_411dup NP_001340907.1:p.Ala138Ter
NM_001353979.2:c.410_411dup NP_001340908.1:p.Ala138Ter
NM_001353981.2:c.410_411dup NP_001340910.1:p.Ala138Ter
NM_001353982.2:c.410_411dup NP_001340911.1:p.Ala138Ter
NM_004187.5:c.410_411dup MANE Select NP_004178.2:p.Ala138Ter
NR_148672.2:n.728_729dup
NR_148673.2:n.728_729dup
NR_148674.2:n.605_606dup
NM_001353984.2:c.410_411dup NP_001340913.1:p.Ala138Ter