Linked Data
dbSNP Id:
rs1567048363
gnomAD v2:
14-104165601-GGCCACCTCACT-G
gnomAD v3:
14-103699264-GGCCACCTCACT-G
gnomAD v4:
14-103699264-GGCCACCTCACT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103699271_103699281del , CM000676.2:g.103699271_103699281del | GRCh38 |
| NC_000014.8:g.104165608_104165618del , CM000676.1:g.104165608_104165618del | GRCh37 |
| NC_000014.7:g.103235361_103235371del | NCBI36 |
| NG_011516.1:g.21212_21222del | |
| NG_012307.1:g.75084_75094del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334553.11:c.1849-1384_1849-1374del (KLC1) MANE Select | ENSP00000334523.6:n.1849-1384_1849-1374del | |
| ENST00000555055.6:c.774+89_775-86del (XRCC3) MANE Select | ENSP00000452598.1:n.774+89_775-86del | |
| ENST00000334553.10:c.1849-1384_1849-1374del (KLC1) | ENSP00000334523.6:n.1849-1384_1849-1374del | |
| ENST00000348520.10:c.1651-1384_1651-1374del (KLC1) | ENSP00000341154.6:n.1651-1384_1651-1374del | |
| ENST00000352127.11:c.774+89_775-86del (XRCC3) | ENSP00000343392.7:n.774+89_775-86del | |
| ENST00000452929.6:c.1782-1384_1782-1374del (KLC1) | ENSP00000414982.2:n.1782-1384_1782-1374del | |
| ENST00000538504.6:n.406-1384_406-1374del (KLC1) | ||
| ENST00000553264.5:c.774+89_775-86del (XRCC3) | ENSP00000451974.1:n.774+89_775-86del | |
| ENST00000554280.5:c.1755-1384_1755-1374del (KLC1) | ENSP00000451242.1:n.1755-1384_1755-1374del | |
| ENST00000554774.1:n.388+89_389-86del (XRCC3) | ||
| ENST00000554811.5:n.2221+89_2222-86del (XRCC3) | ||
| ENST00000554913.5:c.774+89_775-86del (XRCC3) | ENSP00000451362.1:n.774+89_775-86del | |
| ENST00000554974.5:c.159+89_160-86del (XRCC3) | ENSP00000451361.1:n.159+89_160-86del | |
| ENST00000555055.5:c.774+89_775-86del (XRCC3) | ENSP00000452598.1:n.774+89_775-86del | |
| ENST00000555836.5:c.1822-1384_1822-1374del (KLC1) | ENSP00000452481.1:n.1822-1384_1822-1374del | |
| ENST00000557450.5:c.1624-1384_1624-1374del (KLC1) | ENSP00000450648.1:n.1624-1384_1624-1374del | |
| ENST00000557686.1:c.150-1384_150-1374del (KLC1) | ||
| NM_001100118.1:c.774+89_775-86del (XRCC3) | NP_001093588.1:n.774+89_775-86del | |
| NM_001100119.1:c.774+89_775-86del (XRCC3) | NP_001093589.1:n.774+89_775-86del | |
| NM_001130107.1:c.1782-1384_1782-1374del (KLC1) | NP_001123579.1:n.1782-1384_1782-1374del | |
| NM_005432.3:c.774+89_775-86del (XRCC3) | NP_005423.1:n.774+89_775-86del | |
| NM_182923.3:c.1651-1384_1651-1374del (KLC1) | NP_891553.2:n.1651-1384_1651-1374del | |
| XM_005268046.1:c.774+89_775-86del (XRCC3) | XP_005268103.1:n.774+89_775-86del | |
| XM_011537138.1:c.774+89_775-86del (XRCC3) | XP_011535440.1:n.774+89_775-86del | |
| XM_005268046.2:c.774+89_775-86del (XRCC3) | XP_005268103.1:n.774+89_775-86del | |
| XM_011537138.2:c.774+89_775-86del (XRCC3) | XP_011535440.1:n.774+89_775-86del | |
| NM_005432.4:c.774+89_775-86del (XRCC3) MANE Select | NP_005423.1:n.774+89_775-86del | |
| NM_001100118.2:c.774+89_775-86del (XRCC3) | NP_001093588.1:n.774+89_775-86del | |
| NM_001100119.2:c.774+89_775-86del (XRCC3) | NP_001093589.1:n.774+89_775-86del | |
| NM_001371229.1:c.774+89_775-86del (XRCC3) | NP_001358158.1:n.774+89_775-86del | |
| NM_001371231.1:c.774+89_775-86del (XRCC3) | NP_001358160.1:n.774+89_775-86del | |
| NM_001371232.1:c.774+89_775-86del (XRCC3) | NP_001358161.1:n.774+89_775-86del | |
| NM_001130107.2:c.1782-1384_1782-1374del (KLC1) | NP_001123579.1:n.1782-1384_1782-1374del | |
| NM_182923.4:c.1651-1384_1651-1374del (KLC1) | NP_891553.2:n.1651-1384_1651-1374del | |
| NM_001394832.1:c.1924-1384_1924-1374del (KLC1) | NP_001381761.1:n.1924-1384_1924-1374del | |
| NM_001394834.1:c.1897-1384_1897-1374del (KLC1) | NP_001381763.1:n.1897-1384_1897-1374del | |
| NM_001394836.1:c.1857-1384_1857-1374del (KLC1) | NP_001381765.1:n.1857-1384_1857-1374del | |
| NM_001394837.1:c.1849-1384_1849-1374del (KLC1) MANE Select | NP_001381766.1:n.1849-1384_1849-1374del | |
| NM_001394839.1:c.1830-1384_1830-1374del (KLC1) | NP_001381768.1:n.1830-1384_1830-1374del | |
| NM_001394840.1:c.1822-1384_1822-1374del (KLC1) | NP_001381769.1:n.1822-1384_1822-1374del | |
| NM_001394842.1:c.1779-1384_1779-1374del (KLC1) | NP_001381771.1:n.1779-1384_1779-1374del | |
| NM_001394843.1:c.1776-1384_1776-1374del (KLC1) | NP_001381772.1:n.1776-1384_1776-1374del | |
| NM_001394844.1:c.1755-1384_1755-1374del (KLC1) | NP_001381773.1:n.1755-1384_1755-1374del | |
| NM_001394846.1:c.1726-1384_1726-1374del (KLC1) | NP_001381775.1:n.1726-1384_1726-1374del | |
| NM_001394848.1:c.1699-1384_1699-1374del (KLC1) | NP_001381777.1:n.1699-1384_1699-1374del | |
| NM_001394851.1:c.1645-1384_1645-1374del (KLC1) | NP_001381780.1:n.1645-1384_1645-1374del | |
| NM_001394852.1:c.1624-1384_1624-1374del (KLC1) | NP_001381781.1:n.1624-1384_1624-1374del |