Canonical Allele Identifier: CA1133164471

Gene: KDM5C

Linked Data

• dbSNP Id: rs2073051343
• gnomAD v3: X-53198754-CAT-C
• gnomAD v4: X-53198754-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53198755_53198756del , CM000685.2:g.53198755_53198756del	GRCh38
NC_000023.10:g.53227937_53227938del , CM000685.1:g.53227937_53227938del	GRCh37
NC_000023.9:g.53244662_53244663del	NCBI36
NG_008085.1:g.31667_31668del
NG_008085.2:g.31667_31668del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685423.1:c.2368+8_2368+9del	ENSP00000508806.1:n.2368+8_2368+9del
ENST00000685641.1:c.2368+8_2368+9del	ENSP00000509818.1:n.2368+8_2368+9del
ENST00000687695.1:c.2365+8_2365+9del	ENSP00000508631.1:n.2365+8_2365+9del
ENST00000688699.1:c.2368+8_2368+9del	ENSP00000510430.1:n.2368+8_2368+9del
ENST00000691505.1:c.2368+8_2368+9del	ENSP00000510354.1:n.2368+8_2368+9del
ENST00000693277.1:c.1873+8_1873+9del	ENSP00000510522.1:n.1873+8_1873+9del
ENST00000375401.8:c.2368+8_2368+9del MANE Select	ENSP00000364550.4:n.2368+8_2368+9del
ENST00000375379.7:c.2368+8_2368+9del	ENSP00000364528.3:n.2368+8_2368+9del
ENST00000375383.7:c.2245+8_2245+9del	ENSP00000364532.3:n.2245+8_2245+9del
ENST00000375401.7:c.2368+8_2368+9del	ENSP00000364550.3:n.2368+8_2368+9del
ENST00000404049.7:c.2365+8_2365+9del	ENSP00000385394.3:n.2365+8_2365+9del
ENST00000452825.7:c.2167+8_2167+9del	ENSP00000445176.1:n.2167+8_2167+9del
ENST00000497100.5:n.1137_1138del
NM_001146702.1:c.2167+8_2167+9del	NP_001140174.1:n.2167+8_2167+9del
NM_001282622.1:c.2365+8_2365+9del	NP_001269551.1:n.2365+8_2365+9del
NM_004187.3:c.2368+8_2368+9del	NP_004178.2:n.2368+8_2368+9del
XM_005262035.3:c.2368+8_2368+9del	XP_005262092.1:n.2368+8_2368+9del
XM_006724609.2:c.2368+8_2368+9del	XP_006724672.1:n.2368+8_2368+9del
XM_011530824.1:c.2368+8_2368+9del	XP_011529126.1:n.2368+8_2368+9del
XM_011530825.1:c.2245+8_2245+9del	XP_011529127.1:n.2245+8_2245+9del
XM_011530826.1:c.2245+8_2245+9del	XP_011529128.1:n.2245+8_2245+9del
XM_011530827.1:c.2368+8_2368+9del	XP_011529129.1:n.2368+8_2368+9del
XM_011530828.1:c.2368+8_2368+9del	XP_011529130.1:n.2368+8_2368+9del
XM_011530829.1:c.1873+8_1873+9del	XP_011529131.1:n.1873+8_1873+9del
XM_011530830.1:c.1873+8_1873+9del	XP_011529132.1:n.1873+8_1873+9del
XM_011530831.1:c.1384+8_1384+9del	XP_011529133.1:n.1384+8_1384+9del
XR_938369.1:n.2714+8_2714+9del
XR_938370.1:n.2714+8_2714+9del
XR_938371.1:n.2714+8_2714+9del
XR_938372.1:n.2714+8_2714+9del
XR_938373.1:n.2714+8_2714+9del
NM_001353978.1:c.2368+8_2368+9del	NP_001340907.1:n.2368+8_2368+9del
NM_001353979.1:c.2365+8_2365+9del	NP_001340908.1:n.2365+8_2365+9del
NM_001353981.1:c.2368+8_2368+9del	NP_001340910.1:n.2368+8_2368+9del
NM_001353982.1:c.2365+8_2365+9del	NP_001340911.1:n.2365+8_2365+9del
NM_001353984.1:c.2368+8_2368+9del	NP_001340913.1:n.2368+8_2368+9del
NR_148672.1:n.2901+8_2901+9del
NR_148673.1:n.2898+8_2898+9del
NR_148674.1:n.2778+8_2778+9del
XM_011530824.3:c.2368+8_2368+9del	XP_011529126.1:n.2368+8_2368+9del
XM_011530825.3:c.2245+8_2245+9del	XP_011529127.1:n.2245+8_2245+9del
XM_011530826.3:c.2245+8_2245+9del	XP_011529128.1:n.2245+8_2245+9del
XM_011530827.3:c.2368+8_2368+9del	XP_011529129.1:n.2368+8_2368+9del
XM_011530828.2:c.2368+8_2368+9del	XP_011529130.1:n.2368+8_2368+9del
XM_011530829.2:c.1873+8_1873+9del	XP_011529131.1:n.1873+8_1873+9del
XM_011530830.2:c.1873+8_1873+9del	XP_011529132.1:n.1873+8_1873+9del
XM_011530831.2:c.1384+8_1384+9del	XP_011529133.1:n.1384+8_1384+9del
XM_024452466.1:c.2365+8_2365+9del	XP_024308234.1:n.2365+8_2365+9del
XR_001755735.2:n.2694+8_2694+9del
XR_001755736.2:n.2694+8_2694+9del
XR_001755737.2:n.2694+8_2694+9del
XR_938370.3:n.2694+8_2694+9del
NM_001146702.2:c.2167+8_2167+9del	NP_001140174.1:n.2167+8_2167+9del
NM_001282622.3:c.2365+8_2365+9del	NP_001269551.1:n.2365+8_2365+9del
NM_001353978.3:c.2368+8_2368+9del	NP_001340907.1:n.2368+8_2368+9del
NM_001353979.2:c.2365+8_2365+9del	NP_001340908.1:n.2365+8_2365+9del
NM_001353981.2:c.2368+8_2368+9del	NP_001340910.1:n.2368+8_2368+9del
NM_001353982.2:c.2365+8_2365+9del	NP_001340911.1:n.2365+8_2365+9del
NM_004187.5:c.2368+8_2368+9del MANE Select	NP_004178.2:n.2368+8_2368+9del
NR_148672.2:n.2686+8_2686+9del
NR_148673.2:n.2683+8_2683+9del
NR_148674.2:n.2563+8_2563+9del
NM_001353984.2:c.2368+8_2368+9del	NP_001340913.1:n.2368+8_2368+9del