Canonical Allele Identifier: CA2626750943

Gene: KLC1 XRCC3

Linked Data

• gnomAD v4: 14-103699816-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103699822_103699823del , CM000676.2:g.103699822_103699823del	GRCh38
NC_000014.8:g.104166159_104166160del , CM000676.1:g.104166159_104166160del	GRCh37
NC_000014.7:g.103235912_103235913del	NCBI36
NG_011516.1:g.20669_20670del
NG_012307.1:g.75635_75636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334553.11:c.1849-833_1849-832del (KLC1) MANE Select	ENSP00000334523.6:n.1849-833_1849-832del
ENST00000555055.6:c.562-242_562-241del (XRCC3) MANE Select	ENSP00000452598.1:n.562-242_562-241del
ENST00000334553.10:c.1849-833_1849-832del (KLC1)	ENSP00000334523.6:n.1849-833_1849-832del
ENST00000348520.10:c.1651-833_1651-832del (KLC1)	ENSP00000341154.6:n.1651-833_1651-832del
ENST00000352127.11:c.562-242_562-241del (XRCC3)	ENSP00000343392.7:n.562-242_562-241del
ENST00000452929.6:c.1782-833_1782-832del (KLC1)	ENSP00000414982.2:n.1782-833_1782-832del
ENST00000538504.6:n.406-833_406-832del (KLC1)
ENST00000553264.5:c.562-242_562-241del (XRCC3)	ENSP00000451974.1:n.562-242_562-241del
ENST00000554280.5:c.1755-833_1755-832del (KLC1)	ENSP00000451242.1:n.1755-833_1755-832del
ENST00000554774.1:n.176-242_176-241del (XRCC3)
ENST00000554811.5:n.2009-242_2009-241del (XRCC3)
ENST00000554913.5:c.562-242_562-241del (XRCC3)	ENSP00000451362.1:n.562-242_562-241del
ENST00000554974.5:c.-54-242_-54-241del (XRCC3)	ENSP00000451361.1:n.-54-242_-54-241del
ENST00000555055.5:c.562-242_562-241del (XRCC3)	ENSP00000452598.1:n.562-242_562-241del
ENST00000555836.5:c.1822-833_1822-832del (KLC1)	ENSP00000452481.1:n.1822-833_1822-832del
ENST00000557450.5:c.1624-833_1624-832del (KLC1)	ENSP00000450648.1:n.1624-833_1624-832del
ENST00000557686.1:c.150-833_150-832del (KLC1)
NM_001100118.1:c.562-242_562-241del (XRCC3)	NP_001093588.1:n.562-242_562-241del
NM_001100119.1:c.562-242_562-241del (XRCC3)	NP_001093589.1:n.562-242_562-241del
NM_001130107.1:c.1782-833_1782-832del (KLC1)	NP_001123579.1:n.1782-833_1782-832del
NM_005432.3:c.562-242_562-241del (XRCC3)	NP_005423.1:n.562-242_562-241del
NM_182923.3:c.1651-833_1651-832del (KLC1)	NP_891553.2:n.1651-833_1651-832del
XM_005268046.1:c.562-242_562-241del (XRCC3)	XP_005268103.1:n.562-242_562-241del
XM_011537138.1:c.562-242_562-241del (XRCC3)	XP_011535440.1:n.562-242_562-241del
XM_005268046.2:c.562-242_562-241del (XRCC3)	XP_005268103.1:n.562-242_562-241del
XM_011537138.2:c.562-242_562-241del (XRCC3)	XP_011535440.1:n.562-242_562-241del
NM_005432.4:c.562-242_562-241del (XRCC3) MANE Select	NP_005423.1:n.562-242_562-241del
NM_001100118.2:c.562-242_562-241del (XRCC3)	NP_001093588.1:n.562-242_562-241del
NM_001100119.2:c.562-242_562-241del (XRCC3)	NP_001093589.1:n.562-242_562-241del
NM_001371229.1:c.562-242_562-241del (XRCC3)	NP_001358158.1:n.562-242_562-241del
NM_001371231.1:c.562-242_562-241del (XRCC3)	NP_001358160.1:n.562-242_562-241del
NM_001371232.1:c.562-242_562-241del (XRCC3)	NP_001358161.1:n.562-242_562-241del
NM_001130107.2:c.1782-833_1782-832del (KLC1)	NP_001123579.1:n.1782-833_1782-832del
NM_182923.4:c.1651-833_1651-832del (KLC1)	NP_891553.2:n.1651-833_1651-832del
NM_001394832.1:c.1924-833_1924-832del (KLC1)	NP_001381761.1:n.1924-833_1924-832del
NM_001394834.1:c.1897-833_1897-832del (KLC1)	NP_001381763.1:n.1897-833_1897-832del
NM_001394836.1:c.1857-833_1857-832del (KLC1)	NP_001381765.1:n.1857-833_1857-832del
NM_001394837.1:c.1849-833_1849-832del (KLC1) MANE Select	NP_001381766.1:n.1849-833_1849-832del
NM_001394839.1:c.1830-833_1830-832del (KLC1)	NP_001381768.1:n.1830-833_1830-832del
NM_001394840.1:c.1822-833_1822-832del (KLC1)	NP_001381769.1:n.1822-833_1822-832del
NM_001394842.1:c.1779-833_1779-832del (KLC1)	NP_001381771.1:n.1779-833_1779-832del
NM_001394843.1:c.1776-833_1776-832del (KLC1)	NP_001381772.1:n.1776-833_1776-832del
NM_001394844.1:c.1755-833_1755-832del (KLC1)	NP_001381773.1:n.1755-833_1755-832del
NM_001394846.1:c.1726-833_1726-832del (KLC1)	NP_001381775.1:n.1726-833_1726-832del
NM_001394848.1:c.1699-833_1699-832del (KLC1)	NP_001381777.1:n.1699-833_1699-832del
NM_001394851.1:c.1645-833_1645-832del (KLC1)	NP_001381780.1:n.1645-833_1645-832del
NM_001394852.1:c.1624-833_1624-832del (KLC1)	NP_001381781.1:n.1624-833_1624-832del