Canonical Allele Identifier: CA2580070740
Gene: SETD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1803640
ClinVar RCV Id: RCV002467310

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9475684_9475706delinsCATTTACG , CM000665.2:g.9475684_9475706delinsCATTTACG GRCh38
NC_000003.11:g.9517368_9517390delinsCATTTACG , CM000665.1:g.9517368_9517390delinsCATTTACG GRCh37
NC_000003.10:g.9492368_9492390delinsCATTTACG NCBI36
NG_034132.1:g.82985_83007delinsCATTTACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682236.1:n.2877_2899delinsCATTTACG
ENST00000682536.1:c.4018_4040delinsCATTTACG ENSP00000507956.1:p.Thr1340_Thr1347delinsHisLeuArg
ENST00000687014.1:n.4911_4933delinsCATTTACG
ENST00000689167.1:n.2302_2324delinsCATTTACG
ENST00000693430.1:n.6164_6186delinsCATTTACG
ENST00000402198.7:c.3922_3944delinsCATTTACG MANE Select ENSP00000385852.2:p.Thr1308_Thr1315delinsHisLeuArg
ENST00000663774.1:c.*4068_*4090delinsCATTTACG ENSP00000499452.1:n.*4068_*4090delinsCATTTACG
ENST00000665872.1:c.*3991_*4013delinsCATTTACG ENSP00000499600.1:n.*3991_*4013delinsCATTTACG
ENST00000666307.1:c.*4296_*4318delinsCATTTACG ENSP00000499402.1:n.*4296_*4318delinsCATTTACG
ENST00000670063.1:c.*4027_*4049delinsCATTTACG ENSP00000499725.1:n.*4027_*4049delinsCATTTACG
ENST00000302463.10:c.3628_3650delinsCATTTACG ENSP00000302028.6:p.Thr1210_Thr1217delinsHisLeuArg
ENST00000399686.6:c.2722+528_2722+550delinsCATTTACG
ENST00000402198.5:c.3922_3944delinsCATTTACG ENSP00000385852.1:p.Thr1308_Thr1315delinsHisLeuArg
ENST00000406341.5:c.3922_3944delinsCATTTACG ENSP00000383939.1:p.Thr1308_Thr1315delinsHisLeuArg
ENST00000407969.5:c.3979_4001delinsCATTTACG ENSP00000384114.1:p.Thr1327_Thr1334delinsHisLeuArg
ENST00000413704.5:c.2958_2980delinsCATTTACG
ENST00000466242.5:n.3263_3285delinsCATTTACG
ENST00000493918.5:n.4086_4108delinsCATTTACG
NM_001080517.2:c.3922_3944delinsCATTTACG NP_001073986.1:p.Thr1308_Thr1315delinsHisLeuArg
NM_001292043.1:c.3628_3650delinsCATTTACG NP_001278972.1:p.Thr1210_Thr1217delinsHisLeuArg
XM_005265301.1:c.3979_4001delinsCATTTACG XP_005265358.1:p.Thr1327_Thr1334delinsHisLeuArg
XM_005265303.1:c.3922_3944delinsCATTTACG XP_005265360.1:p.Thr1308_Thr1315delinsHisLeuArg
XM_011533920.1:c.4096_4118delinsCATTTACG XP_011532222.1:p.Thr1366_Thr1373delinsHisLeuArg
XM_011533921.1:c.4096_4118delinsCATTTACG XP_011532223.1:p.Thr1366_Thr1373delinsHisLeuArg
XM_011533922.1:c.4075_4097delinsCATTTACG XP_011532224.1:p.Thr1359_Thr1366delinsHisLeuArg
XM_011533923.1:c.4075_4097delinsCATTTACG XP_011532225.1:p.Thr1359_Thr1366delinsHisLeuArg
XM_011533924.1:c.4075_4097delinsCATTTACG XP_011532226.1:p.Thr1359_Thr1366delinsHisLeuArg
XM_011533925.1:c.4057_4079delinsCATTTACG XP_011532227.1:p.Thr1353_Thr1360delinsHisLeuArg
XM_011533926.1:c.4039_4061delinsCATTTACG XP_011532228.1:p.Thr1347_Thr1354delinsHisLeuArg
XM_011533927.1:c.4039_4061delinsCATTTACG XP_011532229.1:p.Thr1347_Thr1354delinsHisLeuArg
XM_011533928.1:c.4018_4040delinsCATTTACG XP_011532230.1:p.Thr1340_Thr1347delinsHisLeuArg
XM_011533929.1:c.4000_4022delinsCATTTACG XP_011532231.1:p.Thr1334_Thr1341delinsHisLeuArg
XM_011533930.1:c.3961_3983delinsCATTTACG XP_011532232.1:p.Thr1321_Thr1328delinsHisLeuArg
XM_011533931.1:c.3685_3707delinsCATTTACG XP_011532233.1:p.Thr1229_Thr1236delinsHisLeuArg
XM_011533932.1:c.3646_3668delinsCATTTACG XP_011532234.1:p.Thr1216_Thr1223delinsHisLeuArg
XM_011533933.1:c.3646_3668delinsCATTTACG XP_011532235.1:p.Thr1216_Thr1223delinsHisLeuArg
NM_001349451.1:c.3628_3650delinsCATTTACG NP_001336380.1:p.Thr1210_Thr1217delinsHisLeuArg
XM_011533921.2:c.4096_4118delinsCATTTACG XP_011532223.1:p.Thr1366_Thr1373delinsHisLeuArg
XM_017006767.1:c.4096_4118delinsCATTTACG XP_016862256.1:p.Thr1366_Thr1373delinsHisLeuArg
XM_017006768.2:c.4075_4097delinsCATTTACG XP_016862257.1:p.Thr1359_Thr1366delinsHisLeuArg
XM_017006770.1:c.4039_4061delinsCATTTACG XP_016862259.1:p.Thr1347_Thr1354delinsHisLeuArg
XM_017006771.1:c.4036_4058delinsCATTTACG XP_016862260.1:p.Thr1346_Thr1353delinsHisLeuArg
XM_017006772.1:c.4000_4022delinsCATTTACG XP_016862261.1:p.Thr1334_Thr1341delinsHisLeuArg
XM_017006773.1:c.4000_4022delinsCATTTACG XP_016862262.1:p.Thr1334_Thr1341delinsHisLeuArg
XM_017006774.1:c.3979_4001delinsCATTTACG XP_016862263.1:p.Thr1327_Thr1334delinsHisLeuArg
XM_017006775.1:c.3943_3965delinsCATTTACG XP_016862264.1:p.Thr1315_Thr1322delinsHisLeuArg
XM_017006776.1:c.3685_3707delinsCATTTACG XP_016862265.1:p.Thr1229_Thr1236delinsHisLeuArg
XM_017006777.1:c.3685_3707delinsCATTTACG XP_016862266.1:p.Thr1229_Thr1236delinsHisLeuArg
XM_017006778.1:c.3685_3707delinsCATTTACG XP_016862267.1:p.Thr1229_Thr1236delinsHisLeuArg
XM_017006779.1:c.3646_3668delinsCATTTACG XP_016862268.1:p.Thr1216_Thr1223delinsHisLeuArg
XM_017006780.1:c.3646_3668delinsCATTTACG XP_016862269.1:p.Thr1216_Thr1223delinsHisLeuArg
XM_017006783.1:c.3418_3440delinsCATTTACG XP_016862272.1:p.Thr1140_Thr1147delinsHisLeuArg
XM_024453620.1:c.4057_4079delinsCATTTACG XP_024309388.1:p.Thr1353_Thr1360delinsHisLeuArg
XM_024453621.1:c.3733_3755delinsCATTTACG XP_024309389.1:p.Thr1245_Thr1252delinsHisLeuArg
XR_001740195.2:n.8305_8327delinsCATTTACG
NM_001080517.3:c.3922_3944delinsCATTTACG MANE Select NP_001073986.1:p.Thr1308_Thr1315delinsHisLeuArg
NM_001292043.2:c.3628_3650delinsCATTTACG NP_001278972.1:p.Thr1210_Thr1217delinsHisLeuArg
NM_001349451.2:c.3628_3650delinsCATTTACG NP_001336380.1:p.Thr1210_Thr1217delinsHisLeuArg