Canonical Allele Identifier: CA641903821

Gene: KDM5C

Linked Data

• dbSNP Id: rs1569258823
• gnomAD v2: X-53224068-TATCATC-T
• gnomAD v4: X-53194886-TATCATC-T
• MyVariant Identifiers: chrX:g.53224069_53224074del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53194888_53194893del , CM000685.2:g.53194888_53194893del	GRCh38
NC_000023.10:g.53224070_53224075del , CM000685.1:g.53224070_53224075del	GRCh37
NC_000023.9:g.53240795_53240800del	NCBI36
NG_008085.1:g.35531_35536del
NG_008085.2:g.35531_35536del

Transcript Alleles

HGVS	Amino-acid change
ENST00000685423.1:c.3438+39_3438+44del	ENSP00000508806.1:n.3438+39_3438+44del
ENST00000685641.1:c.3438+39_3438+44del	ENSP00000509818.1:n.3438+39_3438+44del
ENST00000687695.1:c.3435+39_3435+44del	ENSP00000508631.1:n.3435+39_3435+44del
ENST00000688699.1:c.3438+39_3438+44del	ENSP00000510430.1:n.3438+39_3438+44del
ENST00000691505.1:c.3438+39_3438+44del	ENSP00000510354.1:n.3438+39_3438+44del
ENST00000693277.1:c.2943+39_2943+44del	ENSP00000510522.1:n.2943+39_2943+44del
ENST00000375401.8:c.3438+39_3438+44del MANE Select	ENSP00000364550.4:n.3438+39_3438+44del
ENST00000375379.7:c.3438+39_3438+44del	ENSP00000364528.3:n.3438+39_3438+44del
ENST00000375383.7:c.3315+39_3315+44del	ENSP00000364532.3:n.3315+39_3315+44del
ENST00000375401.7:c.3438+39_3438+44del	ENSP00000364550.3:n.3438+39_3438+44del
ENST00000404049.7:c.3435+39_3435+44del	ENSP00000385394.3:n.3435+39_3435+44del
ENST00000452825.7:c.3237+39_3237+44del	ENSP00000445176.1:n.3237+39_3237+44del
NM_001146702.1:c.3237+39_3237+44del	NP_001140174.1:n.3237+39_3237+44del
NM_001282622.1:c.3435+39_3435+44del	NP_001269551.1:n.3435+39_3435+44del
NM_004187.3:c.3438+39_3438+44del	NP_004178.2:n.3438+39_3438+44del
XM_005262035.3:c.3438+39_3438+44del	XP_005262092.1:n.3438+39_3438+44del
XM_006724609.2:c.3438+39_3438+44del	XP_006724672.1:n.3438+39_3438+44del
XM_011530824.1:c.3360+39_3360+44del	XP_011529126.1:n.3360+39_3360+44del
XM_011530825.1:c.3315+39_3315+44del	XP_011529127.1:n.3315+39_3315+44del
XM_011530826.1:c.3315+39_3315+44del	XP_011529128.1:n.3315+39_3315+44del
XM_011530827.1:c.3438+39_3438+44del	XP_011529129.1:n.3438+39_3438+44del
XM_011530828.1:c.3438+39_3438+44del	XP_011529130.1:n.3438+39_3438+44del
XM_011530829.1:c.2943+39_2943+44del	XP_011529131.1:n.2943+39_2943+44del
XM_011530830.1:c.2943+39_2943+44del	XP_011529132.1:n.2943+39_2943+44del
XM_011530831.1:c.2454+39_2454+44del	XP_011529133.1:n.2454+39_2454+44del
XR_938369.1:n.3784+39_3784+44del
XR_938370.1:n.3784+39_3784+44del
XR_938371.1:n.3784+39_3784+44del
XR_938372.1:n.3784+39_3784+44del
XR_938373.1:n.3784+39_3784+44del
NM_001353978.1:c.3438+39_3438+44del	NP_001340907.1:n.3438+39_3438+44del
NM_001353979.1:c.3435+39_3435+44del	NP_001340908.1:n.3435+39_3435+44del
NM_001353981.1:c.3438+39_3438+44del	NP_001340910.1:n.3438+39_3438+44del
NM_001353982.1:c.3435+39_3435+44del	NP_001340911.1:n.3435+39_3435+44del
NM_001353984.1:c.3438+39_3438+44del	NP_001340913.1:n.3438+39_3438+44del
NR_148672.1:n.3971+39_3971+44del
NR_148673.1:n.3968+39_3968+44del
NR_148674.1:n.3848+39_3848+44del
XM_011530824.3:c.3360+39_3360+44del	XP_011529126.1:n.3360+39_3360+44del
XM_011530825.3:c.3315+39_3315+44del	XP_011529127.1:n.3315+39_3315+44del
XM_011530826.3:c.3315+39_3315+44del	XP_011529128.1:n.3315+39_3315+44del
XM_011530827.3:c.3438+39_3438+44del	XP_011529129.1:n.3438+39_3438+44del
XM_011530828.2:c.3438+39_3438+44del	XP_011529130.1:n.3438+39_3438+44del
XM_011530829.2:c.2943+39_2943+44del	XP_011529131.1:n.2943+39_2943+44del
XM_011530830.2:c.2943+39_2943+44del	XP_011529132.1:n.2943+39_2943+44del
XM_011530831.2:c.2454+39_2454+44del	XP_011529133.1:n.2454+39_2454+44del
XM_024452466.1:c.3435+39_3435+44del	XP_024308234.1:n.3435+39_3435+44del
XR_001755735.2:n.3764+39_3764+44del
XR_001755736.2:n.3764+39_3764+44del
XR_001755737.2:n.3764+39_3764+44del
XR_938370.3:n.3764+39_3764+44del
NM_001146702.2:c.3237+39_3237+44del	NP_001140174.1:n.3237+39_3237+44del
NM_001282622.3:c.3435+39_3435+44del	NP_001269551.1:n.3435+39_3435+44del
NM_001353978.3:c.3438+39_3438+44del	NP_001340907.1:n.3438+39_3438+44del
NM_001353979.2:c.3435+39_3435+44del	NP_001340908.1:n.3435+39_3435+44del
NM_001353981.2:c.3438+39_3438+44del	NP_001340910.1:n.3438+39_3438+44del
NM_001353982.2:c.3435+39_3435+44del	NP_001340911.1:n.3435+39_3435+44del
NM_004187.5:c.3438+39_3438+44del MANE Select	NP_004178.2:n.3438+39_3438+44del
NR_148672.2:n.3756+39_3756+44del
NR_148673.2:n.3753+39_3753+44del
NR_148674.2:n.3633+39_3633+44del
NM_001353984.2:c.3438+39_3438+44del	NP_001340913.1:n.3438+39_3438+44del