Canonical Allele Identifier: CA2693786065

Gene: KDM5C

Linked Data

• gnomAD v4: X-53216050-C-CCACCCCAGCCTGTTAGGCCTTACCTTTCTTCCGCAGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53216052_53216090dup , CM000685.2:g.53216052_53216090dup	GRCh38
NC_000023.10:g.53245234_53245272dup , CM000685.1:g.53245234_53245272dup	GRCh37
NC_000023.9:g.53261959_53261997dup	NCBI36
NG_008085.1:g.14334_14372dup
NG_008085.2:g.14334_14372dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465402.2:n.1097_1112+23dup
ENST00000685423.1:c.766_781+23dup
ENST00000685539.1:n.1110_1125+23dup
ENST00000685641.1:c.766_781+23dup
ENST00000687695.1:c.763_778+23dup
ENST00000687928.1:n.1036_1051+23dup
ENST00000688699.1:c.766_781+23dup
ENST00000691505.1:c.766_781+23dup
ENST00000693277.1:c.271_286+23dup
ENST00000375401.8:c.766_781+23dup
ENST00000375379.7:c.766_781+23dup
ENST00000375383.7:c.643_658+23dup
ENST00000375401.7:c.766_781+23dup
ENST00000404049.7:c.763_778+23dup
ENST00000452825.7:c.565_580+23dup
ENST00000497995.1:n.116_131+23dup
NM_001146702.1:c.565_580+23dup
NM_001282622.1:c.763_778+23dup
NM_004187.3:c.766_781+23dup
XM_005262035.3:c.766_781+23dup
XM_006724609.2:c.766_781+23dup
XM_011530824.1:c.766_781+23dup
XM_011530825.1:c.643_658+23dup
XM_011530826.1:c.643_658+23dup
XM_011530827.1:c.766_781+23dup
XM_011530828.1:c.766_781+23dup
XM_011530829.1:c.271_286+23dup
XM_011530830.1:c.271_286+23dup
XR_938369.1:n.1112_1127+23dup
XR_938370.1:n.1112_1127+23dup
XR_938371.1:n.1112_1127+23dup
XR_938372.1:n.1112_1127+23dup
XR_938373.1:n.1112_1127+23dup
NM_001353978.1:c.766_781+23dup
NM_001353979.1:c.763_778+23dup
NM_001353981.1:c.766_781+23dup
NM_001353982.1:c.763_778+23dup
NM_001353984.1:c.766_781+23dup
NR_148672.1:n.1299_1314+23dup
NR_148673.1:n.1296_1311+23dup
NR_148674.1:n.1176_1191+23dup
XM_011530824.3:c.766_781+23dup
XM_011530825.3:c.643_658+23dup
XM_011530826.3:c.643_658+23dup
XM_011530827.3:c.766_781+23dup
XM_011530828.2:c.766_781+23dup
XM_011530829.2:c.271_286+23dup
XM_011530830.2:c.271_286+23dup
XM_024452466.1:c.763_778+23dup
XR_001755735.2:n.1092_1107+23dup
XR_001755736.2:n.1092_1107+23dup
XR_001755737.2:n.1092_1107+23dup
XR_938370.3:n.1092_1107+23dup
NM_001146702.2:c.565_580+23dup
NM_001282622.3:c.763_778+23dup
NM_001353978.3:c.766_781+23dup
NM_001353979.2:c.763_778+23dup
NM_001353981.2:c.766_781+23dup
NM_001353982.2:c.763_778+23dup
NM_004187.5:c.766_781+23dup
NR_148672.2:n.1084_1099+23dup
NR_148673.2:n.1081_1096+23dup
NR_148674.2:n.961_976+23dup
NM_001353984.2:c.766_781+23dup