Canonical Allele Identifier: CA2626750140

Gene: KLC1 XRCC3

Linked Data

• gnomAD v4: 14-103699523-GCCCCGAGACAGCAGTACGGGGACCTTCTTATTCACACACTCCAACAAGGTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103699526_103699577del , CM000676.2:g.103699526_103699577del	GRCh38
NC_000014.8:g.104165863_104165914del , CM000676.1:g.104165863_104165914del	GRCh37
NC_000014.7:g.103235616_103235667del	NCBI36
NG_011516.1:g.20912_20963del
NG_012307.1:g.75339_75390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334553.11:c.1849-1129_1849-1078del (KLC1) MANE Select	ENSP00000334523.6:n.1849-1129_1849-1078del
ENST00000555055.6:c.563_614del (XRCC3)
ENST00000334553.10:c.1849-1129_1849-1078del (KLC1)	ENSP00000334523.6:n.1849-1129_1849-1078del
ENST00000348520.10:c.1651-1129_1651-1078del (KLC1)	ENSP00000341154.6:n.1651-1129_1651-1078del
ENST00000352127.11:c.563_614del (XRCC3)
ENST00000452929.6:c.1782-1129_1782-1078del (KLC1)	ENSP00000414982.2:n.1782-1129_1782-1078del
ENST00000538504.6:n.406-1129_406-1078del (KLC1)
ENST00000553264.5:c.563_614del (XRCC3)
ENST00000554280.5:c.1755-1129_1755-1078del (KLC1)	ENSP00000451242.1:n.1755-1129_1755-1078del
ENST00000554774.1:n.177_228del (XRCC3)
ENST00000554811.5:n.2010_2061del (XRCC3)
ENST00000554913.5:c.563_614del (XRCC3)
ENST00000554974.5:c.-53_-2del (XRCC3)
ENST00000555055.5:c.563_614del (XRCC3)
ENST00000555836.5:c.1822-1129_1822-1078del (KLC1)	ENSP00000452481.1:n.1822-1129_1822-1078del
ENST00000557450.5:c.1624-1129_1624-1078del (KLC1)	ENSP00000450648.1:n.1624-1129_1624-1078del
ENST00000557686.1:c.150-1129_150-1078del (KLC1)
NM_001100118.1:c.563_614del (XRCC3)
NM_001100119.1:c.563_614del (XRCC3)
NM_001130107.1:c.1782-1129_1782-1078del (KLC1)	NP_001123579.1:n.1782-1129_1782-1078del
NM_005432.3:c.563_614del (XRCC3)
NM_182923.3:c.1651-1129_1651-1078del (KLC1)	NP_891553.2:n.1651-1129_1651-1078del
XM_005268046.1:c.563_614del (XRCC3)
XM_011537138.1:c.563_614del (XRCC3)
XM_005268046.2:c.563_614del (XRCC3)
XM_011537138.2:c.563_614del (XRCC3)
NM_005432.4:c.563_614del (XRCC3)
NM_001100118.2:c.563_614del (XRCC3)
NM_001100119.2:c.563_614del (XRCC3)
NM_001371229.1:c.563_614del (XRCC3)
NM_001371231.1:c.563_614del (XRCC3)
NM_001371232.1:c.563_614del (XRCC3)
NM_001130107.2:c.1782-1129_1782-1078del (KLC1)	NP_001123579.1:n.1782-1129_1782-1078del
NM_182923.4:c.1651-1129_1651-1078del (KLC1)	NP_891553.2:n.1651-1129_1651-1078del
NM_001394832.1:c.1924-1129_1924-1078del (KLC1)	NP_001381761.1:n.1924-1129_1924-1078del
NM_001394834.1:c.1897-1129_1897-1078del (KLC1)	NP_001381763.1:n.1897-1129_1897-1078del
NM_001394836.1:c.1857-1129_1857-1078del (KLC1)	NP_001381765.1:n.1857-1129_1857-1078del
NM_001394837.1:c.1849-1129_1849-1078del (KLC1) MANE Select	NP_001381766.1:n.1849-1129_1849-1078del
NM_001394839.1:c.1830-1129_1830-1078del (KLC1)	NP_001381768.1:n.1830-1129_1830-1078del
NM_001394840.1:c.1822-1129_1822-1078del (KLC1)	NP_001381769.1:n.1822-1129_1822-1078del
NM_001394842.1:c.1779-1129_1779-1078del (KLC1)	NP_001381771.1:n.1779-1129_1779-1078del
NM_001394843.1:c.1776-1129_1776-1078del (KLC1)	NP_001381772.1:n.1776-1129_1776-1078del
NM_001394844.1:c.1755-1129_1755-1078del (KLC1)	NP_001381773.1:n.1755-1129_1755-1078del
NM_001394846.1:c.1726-1129_1726-1078del (KLC1)	NP_001381775.1:n.1726-1129_1726-1078del
NM_001394848.1:c.1699-1129_1699-1078del (KLC1)	NP_001381777.1:n.1699-1129_1699-1078del
NM_001394851.1:c.1645-1129_1645-1078del (KLC1)	NP_001381780.1:n.1645-1129_1645-1078del
NM_001394852.1:c.1624-1129_1624-1078del (KLC1)	NP_001381781.1:n.1624-1129_1624-1078del