Canonical Allele Identifier: CA2160434353

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.103699804_103699808delinsGTCCT , CM000676.2:g.103699804_103699808delinsGTCCT GRCh38
NC_000014.8:g.104166141_104166145delinsGTCCT , CM000676.1:g.104166141_104166145delinsGTCCT GRCh37
NC_000014.7:g.103235894_103235898delinsGTCCT NCBI36
NG_011516.1:g.20679_20683delinsAGGAC
NG_012307.1:g.75617_75621delinsGTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000334553.11:c.1849-851_1849-847delinsGTCCT (KLC1) MANE Select ENSP00000334523.6:n.1849-851_1849-847delinsGTCCT
ENST00000555055.6:c.562-232_562-228delinsAGGAC (XRCC3) MANE Select ENSP00000452598.1:n.562-232_562-228delinsAGGAC
ENST00000334553.10:c.1849-851_1849-847delinsGTCCT (KLC1) ENSP00000334523.6:n.1849-851_1849-847delinsGTCCT
ENST00000348520.10:c.1651-851_1651-847delinsGTCCT (KLC1) ENSP00000341154.6:n.1651-851_1651-847delinsGTCCT
ENST00000352127.11:c.562-232_562-228delinsAGGAC (XRCC3) ENSP00000343392.7:n.562-232_562-228delinsAGGAC
ENST00000452929.6:c.1782-851_1782-847delinsGTCCT (KLC1) ENSP00000414982.2:n.1782-851_1782-847delinsGTCCT
ENST00000538504.6:n.406-851_406-847delinsGTCCT (KLC1)
ENST00000553264.5:c.562-232_562-228delinsAGGAC (XRCC3) ENSP00000451974.1:n.562-232_562-228delinsAGGAC
ENST00000554280.5:c.1755-851_1755-847delinsGTCCT (KLC1) ENSP00000451242.1:n.1755-851_1755-847delinsGTCCT
ENST00000554774.1:n.176-232_176-228delinsAGGAC (XRCC3)
ENST00000554811.5:n.2009-232_2009-228delinsAGGAC (XRCC3)
ENST00000554913.5:c.562-232_562-228delinsAGGAC (XRCC3) ENSP00000451362.1:n.562-232_562-228delinsAGGAC
ENST00000554974.5:c.-54-232_-54-228delinsAGGAC (XRCC3) ENSP00000451361.1:n.-54-232_-54-228delinsAGGAC
ENST00000555055.5:c.562-232_562-228delinsAGGAC (XRCC3) ENSP00000452598.1:n.562-232_562-228delinsAGGAC
ENST00000555836.5:c.1822-851_1822-847delinsGTCCT (KLC1) ENSP00000452481.1:n.1822-851_1822-847delinsGTCCT
ENST00000557450.5:c.1624-851_1624-847delinsGTCCT (KLC1) ENSP00000450648.1:n.1624-851_1624-847delinsGTCCT
ENST00000557686.1:c.150-851_150-847delinsGTCCT (KLC1)
NM_001100118.1:c.562-232_562-228delinsAGGAC (XRCC3) NP_001093588.1:n.562-232_562-228delinsAGGAC
NM_001100119.1:c.562-232_562-228delinsAGGAC (XRCC3) NP_001093589.1:n.562-232_562-228delinsAGGAC
NM_001130107.1:c.1782-851_1782-847delinsGTCCT (KLC1) NP_001123579.1:n.1782-851_1782-847delinsGTCCT
NM_005432.3:c.562-232_562-228delinsAGGAC (XRCC3) NP_005423.1:n.562-232_562-228delinsAGGAC
NM_182923.3:c.1651-851_1651-847delinsGTCCT (KLC1) NP_891553.2:n.1651-851_1651-847delinsGTCCT
XM_005268046.1:c.562-232_562-228delinsAGGAC (XRCC3) XP_005268103.1:n.562-232_562-228delinsAGGAC
XM_011537138.1:c.562-232_562-228delinsAGGAC (XRCC3) XP_011535440.1:n.562-232_562-228delinsAGGAC
XM_005268046.2:c.562-232_562-228delinsAGGAC (XRCC3) XP_005268103.1:n.562-232_562-228delinsAGGAC
XM_011537138.2:c.562-232_562-228delinsAGGAC (XRCC3) XP_011535440.1:n.562-232_562-228delinsAGGAC
NM_005432.4:c.562-232_562-228delinsAGGAC (XRCC3) MANE Select NP_005423.1:n.562-232_562-228delinsAGGAC
NM_001100118.2:c.562-232_562-228delinsAGGAC (XRCC3) NP_001093588.1:n.562-232_562-228delinsAGGAC
NM_001100119.2:c.562-232_562-228delinsAGGAC (XRCC3) NP_001093589.1:n.562-232_562-228delinsAGGAC
NM_001371229.1:c.562-232_562-228delinsAGGAC (XRCC3) NP_001358158.1:n.562-232_562-228delinsAGGAC
NM_001371231.1:c.562-232_562-228delinsAGGAC (XRCC3) NP_001358160.1:n.562-232_562-228delinsAGGAC
NM_001371232.1:c.562-232_562-228delinsAGGAC (XRCC3) NP_001358161.1:n.562-232_562-228delinsAGGAC
NM_001130107.2:c.1782-851_1782-847delinsGTCCT (KLC1) NP_001123579.1:n.1782-851_1782-847delinsGTCCT
NM_182923.4:c.1651-851_1651-847delinsGTCCT (KLC1) NP_891553.2:n.1651-851_1651-847delinsGTCCT
NM_001394832.1:c.1924-851_1924-847delinsGTCCT (KLC1) NP_001381761.1:n.1924-851_1924-847delinsGTCCT
NM_001394834.1:c.1897-851_1897-847delinsGTCCT (KLC1) NP_001381763.1:n.1897-851_1897-847delinsGTCCT
NM_001394836.1:c.1857-851_1857-847delinsGTCCT (KLC1) NP_001381765.1:n.1857-851_1857-847delinsGTCCT
NM_001394837.1:c.1849-851_1849-847delinsGTCCT (KLC1) MANE Select NP_001381766.1:n.1849-851_1849-847delinsGTCCT
NM_001394839.1:c.1830-851_1830-847delinsGTCCT (KLC1) NP_001381768.1:n.1830-851_1830-847delinsGTCCT
NM_001394840.1:c.1822-851_1822-847delinsGTCCT (KLC1) NP_001381769.1:n.1822-851_1822-847delinsGTCCT
NM_001394842.1:c.1779-851_1779-847delinsGTCCT (KLC1) NP_001381771.1:n.1779-851_1779-847delinsGTCCT
NM_001394843.1:c.1776-851_1776-847delinsGTCCT (KLC1) NP_001381772.1:n.1776-851_1776-847delinsGTCCT
NM_001394844.1:c.1755-851_1755-847delinsGTCCT (KLC1) NP_001381773.1:n.1755-851_1755-847delinsGTCCT
NM_001394846.1:c.1726-851_1726-847delinsGTCCT (KLC1) NP_001381775.1:n.1726-851_1726-847delinsGTCCT
NM_001394848.1:c.1699-851_1699-847delinsGTCCT (KLC1) NP_001381777.1:n.1699-851_1699-847delinsGTCCT
NM_001394851.1:c.1645-851_1645-847delinsGTCCT (KLC1) NP_001381780.1:n.1645-851_1645-847delinsGTCCT
NM_001394852.1:c.1624-851_1624-847delinsGTCCT (KLC1) NP_001381781.1:n.1624-851_1624-847delinsGTCCT