Canonical Allele Identifier: CA7366288

Gene: KLC1 XRCC3

Linked Data

• dbSNP Id: rs773583753
• ExAC: 14:104165243 TGGGCAGCCGA / T
• gnomAD v2: 14-104165243-TGGGCAGCCGA-T
• gnomAD v3: 14-103698906-TGGGCAGCCGA-T
• gnomAD v4: 14-103698906-TGGGCAGCCGA-T
• MyVariant Identifiers: chr14:g.104165244_104165253del (hg19) ; chr14:g.103698907_103698916del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103698915_103698924del , CM000676.2:g.103698915_103698924del	GRCh38
NC_000014.8:g.104165252_104165261del , CM000676.1:g.104165252_104165261del	GRCh37
NC_000014.7:g.103235005_103235014del	NCBI36
NG_011516.1:g.21571_21580del
NG_012307.1:g.74728_74737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334553.11:c.1849-1740_1849-1731del (KLC1) MANE Select	ENSP00000334523.6:n.1849-1740_1849-1731del
ENST00000555055.6:c.923_932del (XRCC3) MANE Select	ENSP00000452598.1:p.Leu308GlnfsTer?
ENST00000334553.10:c.1849-1740_1849-1731del (KLC1)	ENSP00000334523.6:n.1849-1740_1849-1731del
ENST00000348520.10:c.1651-1740_1651-1731del (KLC1)	ENSP00000341154.6:n.1651-1740_1651-1731del
ENST00000352127.11:c.923_932del (XRCC3)	ENSP00000343392.7:p.Leu308GlnfsTer?
ENST00000452929.6:c.1782-1740_1782-1731del (KLC1)	ENSP00000414982.2:n.1782-1740_1782-1731del
ENST00000538504.6:n.406-1740_406-1731del (KLC1)
ENST00000553264.5:c.923_932del (XRCC3)	ENSP00000451974.1:p.Leu308GlnfsTer?
ENST00000554280.5:c.1755-1740_1755-1731del (KLC1)	ENSP00000451242.1:n.1755-1740_1755-1731del
ENST00000554811.5:n.2370_2379del (XRCC3)
ENST00000554913.5:c.923_932del (XRCC3)	ENSP00000451362.1:p.Leu308GlnfsTer?
ENST00000554974.5:c.308_317del (XRCC3)	ENSP00000451361.1:p.Leu103GlnfsTer?
ENST00000555055.5:c.923_932del (XRCC3)	ENSP00000452598.1:p.Leu308GlnfsTer?
ENST00000555836.5:c.1822-1740_1822-1731del (KLC1)	ENSP00000452481.1:n.1822-1740_1822-1731del
ENST00000557450.5:c.1624-1740_1624-1731del (KLC1)	ENSP00000450648.1:n.1624-1740_1624-1731del
ENST00000557686.1:c.150-1740_150-1731del (KLC1)
NM_001100118.1:c.923_932del (XRCC3)	NP_001093588.1:p.Leu308GlnfsTer?
NM_001100119.1:c.923_932del (XRCC3)	NP_001093589.1:p.Leu308GlnfsTer?
NM_001130107.1:c.1782-1740_1782-1731del (KLC1)	NP_001123579.1:n.1782-1740_1782-1731del
NM_005432.3:c.923_932del (XRCC3)	NP_005423.1:p.Leu308GlnfsTer?
NM_182923.3:c.1651-1740_1651-1731del (KLC1)	NP_891553.2:n.1651-1740_1651-1731del
XM_005268046.1:c.923_932del (XRCC3)	XP_005268103.1:p.Leu308GlnfsTer?
XM_011537138.1:c.923_932del (XRCC3)	XP_011535440.1:p.Leu308GlnfsTer?
XM_005268046.2:c.923_932del (XRCC3)	XP_005268103.1:p.Leu308GlnfsTer?
XM_011537138.2:c.923_932del (XRCC3)	XP_011535440.1:p.Leu308GlnfsTer?
NM_005432.4:c.923_932del (XRCC3) MANE Select	NP_005423.1:p.Leu308GlnfsTer?
NM_001100118.2:c.923_932del (XRCC3)	NP_001093588.1:p.Leu308GlnfsTer?
NM_001100119.2:c.923_932del (XRCC3)	NP_001093589.1:p.Leu308GlnfsTer?
NM_001371229.1:c.923_932del (XRCC3)	NP_001358158.1:p.Leu308GlnfsTer?
NM_001371231.1:c.923_932del (XRCC3)	NP_001358160.1:p.Leu308GlnfsTer?
NM_001371232.1:c.923_932del (XRCC3)	NP_001358161.1:p.Leu308GlnfsTer?
NM_001130107.2:c.1782-1740_1782-1731del (KLC1)	NP_001123579.1:n.1782-1740_1782-1731del
NM_182923.4:c.1651-1740_1651-1731del (KLC1)	NP_891553.2:n.1651-1740_1651-1731del
NM_001394832.1:c.1924-1740_1924-1731del (KLC1)	NP_001381761.1:n.1924-1740_1924-1731del
NM_001394834.1:c.1897-1740_1897-1731del (KLC1)	NP_001381763.1:n.1897-1740_1897-1731del
NM_001394836.1:c.1857-1740_1857-1731del (KLC1)	NP_001381765.1:n.1857-1740_1857-1731del
NM_001394837.1:c.1849-1740_1849-1731del (KLC1) MANE Select	NP_001381766.1:n.1849-1740_1849-1731del
NM_001394839.1:c.1830-1740_1830-1731del (KLC1)	NP_001381768.1:n.1830-1740_1830-1731del
NM_001394840.1:c.1822-1740_1822-1731del (KLC1)	NP_001381769.1:n.1822-1740_1822-1731del
NM_001394842.1:c.1779-1740_1779-1731del (KLC1)	NP_001381771.1:n.1779-1740_1779-1731del
NM_001394843.1:c.1776-1740_1776-1731del (KLC1)	NP_001381772.1:n.1776-1740_1776-1731del
NM_001394844.1:c.1755-1740_1755-1731del (KLC1)	NP_001381773.1:n.1755-1740_1755-1731del
NM_001394846.1:c.1726-1740_1726-1731del (KLC1)	NP_001381775.1:n.1726-1740_1726-1731del
NM_001394848.1:c.1699-1740_1699-1731del (KLC1)	NP_001381777.1:n.1699-1740_1699-1731del
NM_001394851.1:c.1645-1740_1645-1731del (KLC1)	NP_001381780.1:n.1645-1740_1645-1731del
NM_001394852.1:c.1624-1740_1624-1731del (KLC1)	NP_001381781.1:n.1624-1740_1624-1731del