Canonical Allele Identifier: CA2693787905

Gene: KDM5C

Linked Data

• gnomAD v4: X-53194886-T-TAG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53194887_53194888insGA , CM000685.2:g.53194887_53194888insGA	GRCh38
NC_000023.10:g.53224069_53224070insGA , CM000685.1:g.53224069_53224070insGA	GRCh37
NC_000023.9:g.53240794_53240795insGA	NCBI36
NG_008085.1:g.35536_35537insCT
NG_008085.2:g.35536_35537insCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000685423.1:c.3438+44_3438+45insCT	ENSP00000508806.1:n.3438+44_3438+45insCT
ENST00000685641.1:c.3438+44_3438+45insCT	ENSP00000509818.1:n.3438+44_3438+45insCT
ENST00000687695.1:c.3435+44_3435+45insCT	ENSP00000508631.1:n.3435+44_3435+45insCT
ENST00000688699.1:c.3438+44_3438+45insCT	ENSP00000510430.1:n.3438+44_3438+45insCT
ENST00000691505.1:c.3438+44_3438+45insCT	ENSP00000510354.1:n.3438+44_3438+45insCT
ENST00000693277.1:c.2943+44_2943+45insCT	ENSP00000510522.1:n.2943+44_2943+45insCT
ENST00000375401.8:c.3438+44_3438+45insCT MANE Select	ENSP00000364550.4:n.3438+44_3438+45insCT
ENST00000375379.7:c.3438+44_3438+45insCT	ENSP00000364528.3:n.3438+44_3438+45insCT
ENST00000375383.7:c.3315+44_3315+45insCT	ENSP00000364532.3:n.3315+44_3315+45insCT
ENST00000375401.7:c.3438+44_3438+45insCT	ENSP00000364550.3:n.3438+44_3438+45insCT
ENST00000404049.7:c.3435+44_3435+45insCT	ENSP00000385394.3:n.3435+44_3435+45insCT
ENST00000452825.7:c.3237+44_3237+45insCT	ENSP00000445176.1:n.3237+44_3237+45insCT
NM_001146702.1:c.3237+44_3237+45insCT	NP_001140174.1:n.3237+44_3237+45insCT
NM_001282622.1:c.3435+44_3435+45insCT	NP_001269551.1:n.3435+44_3435+45insCT
NM_004187.3:c.3438+44_3438+45insCT	NP_004178.2:n.3438+44_3438+45insCT
XM_005262035.3:c.3438+44_3438+45insCT	XP_005262092.1:n.3438+44_3438+45insCT
XM_006724609.2:c.3438+44_3438+45insCT	XP_006724672.1:n.3438+44_3438+45insCT
XM_011530824.1:c.3360+44_3360+45insCT	XP_011529126.1:n.3360+44_3360+45insCT
XM_011530825.1:c.3315+44_3315+45insCT	XP_011529127.1:n.3315+44_3315+45insCT
XM_011530826.1:c.3315+44_3315+45insCT	XP_011529128.1:n.3315+44_3315+45insCT
XM_011530827.1:c.3438+44_3438+45insCT	XP_011529129.1:n.3438+44_3438+45insCT
XM_011530828.1:c.3438+44_3438+45insCT	XP_011529130.1:n.3438+44_3438+45insCT
XM_011530829.1:c.2943+44_2943+45insCT	XP_011529131.1:n.2943+44_2943+45insCT
XM_011530830.1:c.2943+44_2943+45insCT	XP_011529132.1:n.2943+44_2943+45insCT
XM_011530831.1:c.2454+44_2454+45insCT	XP_011529133.1:n.2454+44_2454+45insCT
XR_938369.1:n.3784+44_3784+45insCT
XR_938370.1:n.3784+44_3784+45insCT
XR_938371.1:n.3784+44_3784+45insCT
XR_938372.1:n.3784+44_3784+45insCT
XR_938373.1:n.3784+44_3784+45insCT
NM_001353978.1:c.3438+44_3438+45insCT	NP_001340907.1:n.3438+44_3438+45insCT
NM_001353979.1:c.3435+44_3435+45insCT	NP_001340908.1:n.3435+44_3435+45insCT
NM_001353981.1:c.3438+44_3438+45insCT	NP_001340910.1:n.3438+44_3438+45insCT
NM_001353982.1:c.3435+44_3435+45insCT	NP_001340911.1:n.3435+44_3435+45insCT
NM_001353984.1:c.3438+44_3438+45insCT	NP_001340913.1:n.3438+44_3438+45insCT
NR_148672.1:n.3971+44_3971+45insCT
NR_148673.1:n.3968+44_3968+45insCT
NR_148674.1:n.3848+44_3848+45insCT
XM_011530824.3:c.3360+44_3360+45insCT	XP_011529126.1:n.3360+44_3360+45insCT
XM_011530825.3:c.3315+44_3315+45insCT	XP_011529127.1:n.3315+44_3315+45insCT
XM_011530826.3:c.3315+44_3315+45insCT	XP_011529128.1:n.3315+44_3315+45insCT
XM_011530827.3:c.3438+44_3438+45insCT	XP_011529129.1:n.3438+44_3438+45insCT
XM_011530828.2:c.3438+44_3438+45insCT	XP_011529130.1:n.3438+44_3438+45insCT
XM_011530829.2:c.2943+44_2943+45insCT	XP_011529131.1:n.2943+44_2943+45insCT
XM_011530830.2:c.2943+44_2943+45insCT	XP_011529132.1:n.2943+44_2943+45insCT
XM_011530831.2:c.2454+44_2454+45insCT	XP_011529133.1:n.2454+44_2454+45insCT
XM_024452466.1:c.3435+44_3435+45insCT	XP_024308234.1:n.3435+44_3435+45insCT
XR_001755735.2:n.3764+44_3764+45insCT
XR_001755736.2:n.3764+44_3764+45insCT
XR_001755737.2:n.3764+44_3764+45insCT
XR_938370.3:n.3764+44_3764+45insCT
NM_001146702.2:c.3237+44_3237+45insCT	NP_001140174.1:n.3237+44_3237+45insCT
NM_001282622.3:c.3435+44_3435+45insCT	NP_001269551.1:n.3435+44_3435+45insCT
NM_001353978.3:c.3438+44_3438+45insCT	NP_001340907.1:n.3438+44_3438+45insCT
NM_001353979.2:c.3435+44_3435+45insCT	NP_001340908.1:n.3435+44_3435+45insCT
NM_001353981.2:c.3438+44_3438+45insCT	NP_001340910.1:n.3438+44_3438+45insCT
NM_001353982.2:c.3435+44_3435+45insCT	NP_001340911.1:n.3435+44_3435+45insCT
NM_004187.5:c.3438+44_3438+45insCT MANE Select	NP_004178.2:n.3438+44_3438+45insCT
NR_148672.2:n.3756+44_3756+45insCT
NR_148673.2:n.3753+44_3753+45insCT
NR_148674.2:n.3633+44_3633+45insCT
NM_001353984.2:c.3438+44_3438+45insCT	NP_001340913.1:n.3438+44_3438+45insCT