Canonical Allele Identifier: CA16621409
Gene: KDM6A HGNC NCBI

Linked Data

ClinVar Variation Id: 418661
ClinVar RCV Id: RCV000479526 RCV003148752
dbSNP Id: rs1064793351
MyVariant Identifiers: chrX:g.44966754_44966757del (hg19) chrX:g.45107509_45107512del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.45107509_45107512del , CM000685.2:g.45107509_45107512del GRCh38
NC_000023.10:g.44966754_44966757del , CM000685.1:g.44966754_44966757del GRCh37
NC_000023.9:g.44851698_44851701del NCBI36
NG_016260.1:g.239332_239335del , LRG_616:g.239332_239335del

Transcript Alleles

HGVS Amino-acid change
ENST00000682908.1:c.3878_3881del ENSP00000508158.1:n.3878_3881del
ENST00000683021.1:c.3897_3900del ENSP00000507416.1:p.Pro1300LeufsTer28
ENST00000683425.1:c.*3461_*3464del ENSP00000507291.1:n.*3461_*3464del
ENST00000684352.1:c.3908_3911del ENSP00000508379.1:n.3908_3911del
ENST00000377967.9:c.3978_3981del ENSP00000367203.4:p.Pro1327LeufsTer28
ENST00000382899.9:c.3999_4002del ENSP00000372355.6:p.Pro1334LeufsTer28
ENST00000431196.3:c.256_259del
ENST00000479423.2:n.3286_3289del
ENST00000536777.6:c.3843_3846del ENSP00000437405.3:p.Pro1282LeufsTer28
ENST00000543216.6:c.3741_3744del ENSP00000443078.3:p.Pro1248LeufsTer28
ENST00000611820.5:c.4134_4137del MANE Select ENSP00000483595.2:p.Pro1379LeufsTer28
ENST00000674541.1:c.*3266_*3269del ENSP00000501919.1:n.*3266_*3269del
ENST00000674564.1:c.3865_3868del ENSP00000502150.1:p.Thr1289AlafsTer?
ENST00000674586.1:c.4056_4059del ENSP00000502660.1:p.Pro1353LeufsTer28
ENST00000674659.1:c.*3216_*3219del ENSP00000502255.1:n.*3216_*3219del
ENST00000674739.1:n.5036_5039del
ENST00000674867.1:c.3840_3843del ENSP00000502060.1:p.Pro1281LeufsTer28
ENST00000675157.1:n.3585_3588del
ENST00000675182.1:n.4018_4021del
ENST00000675514.1:c.*529_*532del ENSP00000502759.1:n.*529_*532del
ENST00000675525.1:n.6100_6103del
ENST00000675546.1:n.10758_10761del
ENST00000675577.1:c.3876_3879del ENSP00000501855.1:p.Pro1293LeufsTer28
ENST00000675816.1:n.5022_5025del
ENST00000676062.1:c.*160_*163del ENSP00000502311.1:n.*160_*163del
ENST00000676085.1:c.*3164_*3167del ENSP00000501752.1:n.*3164_*3167del
ENST00000676133.1:c.*4031_*4034del ENSP00000502586.1:n.*4031_*4034del
ENST00000676343.1:c.*86_*89del ENSP00000501761.1:n.*86_*89del
ENST00000676389.1:n.4421_4424del
ENST00000377967.8:c.3978_3981del ENSP00000367203.4:p.Pro1327LeufsTer28
ENST00000382899.8:c.3927_3930del ENSP00000372355.5:p.Pro1310LeufsTer28
ENST00000414389.5:c.2770_2773del
ENST00000431196.2:c.256_259del
ENST00000433797.5:c.2905_2908del
ENST00000479423.1:n.570_573del
ENST00000536777.5:c.3771_3774del ENSP00000437405.2:p.Pro1258LeufsTer28
ENST00000543216.5:c.3793_3796del ENSP00000443078.2:p.Thr1265AlafsTer?
ENST00000611820.4:c.4062_4065del ENSP00000483595.1:p.Pro1355LeufsTer28
ENST00000621147.4:c.2648_2651del ENSP00000478793.1:n.2648_2651del
NM_001291415.1:c.4134_4137del , LRG_616t1:c.4134_4137del NP_001278344.1:p.Pro1379LeufsTer28
NM_001291416.1:c.3999_4002del NP_001278345.1:p.Pro1334LeufsTer28
NM_001291417.1:c.3843_3846del NP_001278346.1:p.Pro1282LeufsTer28
NM_001291418.1:c.3741_3744del NP_001278347.1:p.Pro1248LeufsTer28
NM_001291421.1:c.3090_3093del NP_001278350.1:p.Pro1031LeufsTer28
NM_021140.3:c.3978_3981del NP_066963.2:p.Pro1327LeufsTer28
NR_111960.1:n.4242_4245del
XM_005272656.3:c.4032_4035del XP_005272713.1:p.Pro1345LeufsTer28
XM_005272659.3:c.3876_3879del XP_005272716.1:p.Pro1293LeufsTer28
XM_011543957.1:c.4299_4302del XP_011542259.1:p.Pro1434LeufsTer28
XM_011543958.1:c.4242_4245del XP_011542260.1:p.Pro1415LeufsTer28
XM_011543959.1:c.4197_4200del XP_011542261.1:p.Pro1400LeufsTer28
XM_011543960.1:c.4191_4194del XP_011542262.1:p.Pro1398LeufsTer28
XM_011543961.1:c.4164_4167del XP_011542263.1:p.Pro1389LeufsTer28
XM_011543962.1:c.4143_4146del XP_011542264.1:p.Pro1382LeufsTer28
XM_011543963.1:c.4107_4110del XP_011542265.1:p.Pro1370LeufsTer28
XM_011543964.1:c.4086_4089del XP_011542266.1:p.Pro1363LeufsTer28
XM_011543965.1:c.4062_4065del XP_011542267.1:p.Pro1355LeufsTer28
XM_011543966.1:c.4041_4044del XP_011542268.1:p.Pro1348LeufsTer28
XM_011543967.1:c.4035_4038del XP_011542269.1:p.Pro1346LeufsTer28
XM_011543968.1:c.4008_4011del XP_011542270.1:p.Pro1337LeufsTer28
XM_011543969.1:c.4005_4008del XP_011542271.1:p.Pro1336LeufsTer28
XM_011543970.1:c.3984_3987del XP_011542272.1:p.Pro1329LeufsTer28
XM_011543971.1:c.3954_3957del XP_011542273.1:p.Pro1319LeufsTer28
XM_011543972.1:c.3951_3954del XP_011542274.1:p.Pro1318LeufsTer28
XM_011543973.1:c.3900_3903del XP_011542275.1:p.Pro1301LeufsTer28
XM_011543975.1:c.3489_3492del XP_011542277.1:p.Pro1164LeufsTer28
XM_005272656.5:c.4032_4035del XP_005272713.1:p.Pro1345LeufsTer28
XM_005272659.5:c.3876_3879del XP_005272716.1:p.Pro1293LeufsTer28
XM_011543958.3:c.4242_4245del XP_011542260.1:p.Pro1415LeufsTer28
XM_011543963.3:c.4107_4110del XP_011542265.1:p.Pro1370LeufsTer28
XM_011543964.3:c.4086_4089del XP_011542266.1:p.Pro1363LeufsTer28
XM_011543969.3:c.4005_4008del XP_011542271.1:p.Pro1336LeufsTer28
XM_011543970.3:c.3984_3987del XP_011542272.1:p.Pro1329LeufsTer28
XM_011543972.3:c.3951_3954del XP_011542274.1:p.Pro1318LeufsTer28
XM_011543975.2:c.3489_3492del XP_011542277.1:p.Pro1164LeufsTer28
XM_017029783.2:c.3897_3900del XP_016885272.1:p.Pro1300LeufsTer28
XM_017029784.1:c.3354_3357del XP_016885273.1:p.Pro1119LeufsTer28
XM_017029785.1:c.2988_2991del XP_016885274.1:p.Pro997LeufsTer28
XM_024452438.1:c.4140_4143del XP_024308206.1:p.Pro1381LeufsTer28
XM_024452439.1:c.3717_3720del XP_024308207.1:p.Pro1240LeufsTer28
XR_002958804.1:n.4676_4679del
NM_001291415.2:c.4134_4137del MANE Select NP_001278344.1:p.Pro1379LeufsTer28
NM_001291416.2:c.3999_4002del NP_001278345.1:p.Pro1334LeufsTer28
NM_001291417.2:c.3843_3846del NP_001278346.1:p.Pro1282LeufsTer28
NM_001291418.2:c.3741_3744del NP_001278347.1:p.Pro1248LeufsTer28
NM_001291421.2:c.3090_3093del NP_001278350.1:p.Pro1031LeufsTer28
NM_021140.4:c.3978_3981del NP_066963.2:p.Pro1327LeufsTer28
NR_111960.2:n.4229_4232del
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