Canonical Allele Identifier: CA2697558263

Gene: DCLRE1C

Linked Data

• ClinVar Variation Id: 2767491
• ClinVar RCV Id: RCV003503400

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14934404del , CM000672.2:g.14934404del	GRCh38
NC_000010.10:g.14976403del , CM000672.1:g.14976403del	GRCh37
NC_000010.9:g.15016409del	NCBI36
NG_007276.1:g.24693del , LRG_54:g.24693del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378241.6:c.*702del	ENSP00000367487.3:n.*702del
ENST00000456122.2:c.*841del	ENSP00000413180.3:n.*841del
ENST00000489161.2:c.*433del	ENSP00000513000.2:n.*433del
ENST00000492201.6:c.655del	ENSP00000512999.1:p.Ser220ValfsTer4
ENST00000697047.1:c.655del	ENSP00000513066.1:p.Ser220ValfsTer4
ENST00000697070.1:c.655del	ENSP00000513085.1:p.Ser220ValfsTer4
ENST00000697071.1:c.*575del	ENSP00000513086.1:n.*575del
ENST00000697072.1:c.655del	ENSP00000513087.1:p.Ser220ValfsTer4
ENST00000697073.1:c.*433del	ENSP00000513088.2:n.*433del
ENST00000697074.1:c.*433del	ENSP00000513089.2:n.*433del
ENST00000697075.1:c.655del	ENSP00000513090.1:p.Ser220ValfsTer4
ENST00000697076.1:c.655del	ENSP00000513091.1:p.Ser220ValfsTer4
ENST00000697077.1:c.*366del	ENSP00000513092.1:n.*366del
ENST00000697078.1:c.*362del	ENSP00000513093.1:n.*362del
ENST00000697079.1:n.359del
ENST00000697080.1:c.*519del	ENSP00000513094.1:n.*519del
ENST00000697081.1:c.*272del	ENSP00000513095.1:n.*272del
ENST00000697082.1:c.*841del	ENSP00000513096.1:n.*841del
ENST00000697083.1:c.*515del	ENSP00000513097.1:n.*515del
ENST00000697084.1:c.655del	ENSP00000513098.1:p.Ser220ValfsTer4
ENST00000697085.1:c.*422del	ENSP00000513099.1:n.*422del
ENST00000697086.1:n.3092del
ENST00000697087.1:c.*575del	ENSP00000513100.1:n.*575del
ENST00000697088.1:c.*272del	ENSP00000513101.1:n.*272del
ENST00000697089.1:c.*575del	ENSP00000513102.1:n.*575del
ENST00000697090.1:n.663del
ENST00000378278.7:c.655del MANE Select	ENSP00000367527.2:p.Ser220ValfsTer4
ENST00000357717.6:c.310del	ENSP00000350349.2:p.Ser105ValfsTer4
ENST00000378246.6:c.310del	ENSP00000367492.2:p.Ser105ValfsTer4
ENST00000378249.5:c.310del	ENSP00000367496.1:p.Ser105ValfsTer4
ENST00000378254.5:c.295del	ENSP00000367502.1:p.Ser100ValfsTer4
ENST00000378255.5:c.295del	ENSP00000367503.1:p.Ser100ValfsTer4
ENST00000378258.5:c.295del	ENSP00000367506.1:p.Ser100ValfsTer4
ENST00000378278.6:c.655del	ENSP00000367527.2:p.Ser220ValfsTer4
ENST00000378289.8:c.655del	ENSP00000367538.4:p.Ser220ValfsTer4
ENST00000396817.6:c.295del	ENSP00000380030.2:p.Ser100ValfsTer4
ENST00000418843.5:c.217del	ENSP00000391428.1:p.Ser74ValfsTer4
NM_001033855.2:c.655del	NP_001029027.1:p.Ser220ValfsTer4
NM_001033857.2:c.295del	NP_001029029.1:p.Ser100ValfsTer4
NM_001033858.2:c.295del	NP_001029030.1:p.Ser100ValfsTer4
NM_001289076.1:c.310del	NP_001276005.1:p.Ser105ValfsTer4
NM_001289077.1:c.295del	NP_001276006.1:p.Ser100ValfsTer4
NM_001289078.1:c.310del	NP_001276007.1:p.Ser105ValfsTer4
NM_001289079.1:c.295del	NP_001276008.1:p.Ser100ValfsTer4
NM_022487.3:c.310del	NP_071932.2:p.Ser105ValfsTer4
NR_110297.1:n.1289del
XM_006717491.2:c.310del	XP_006717554.1:p.Ser105ValfsTer4
XM_011519616.1:c.310del	XP_011517918.1:p.Ser105ValfsTer4
XM_011519617.1:c.310del	XP_011517919.1:p.Ser105ValfsTer4
XM_011519618.1:c.310del	XP_011517920.1:p.Ser105ValfsTer4
XM_011519619.1:c.295del	XP_011517921.1:p.Ser100ValfsTer4
XM_011519620.1:c.655del	XP_011517922.1:p.Ser220ValfsTer4
XM_011519621.1:c.655del	XP_011517923.1:p.Ser220ValfsTer4
XR_242702.2:n.752del
XR_930514.1:n.752del
XR_930515.1:n.752del
NM_001350965.1:c.655del	NP_001337894.1:p.Ser220ValfsTer4
NM_001350966.1:c.310del	NP_001337895.1:p.Ser105ValfsTer4
NM_001350967.1:c.295del	NP_001337896.1:p.Ser100ValfsTer4
NR_146960.1:n.1077del
NR_146961.1:n.1106del
NR_146962.1:n.1077del
XM_006717491.4:c.310del	XP_006717554.1:p.Ser105ValfsTer4
XM_011519620.3:c.655del	XP_011517922.1:p.Ser220ValfsTer4
XM_011519621.2:c.655del	XP_011517923.1:p.Ser220ValfsTer4
XM_017016557.1:c.310del	XP_016872046.1:p.Ser105ValfsTer4
XM_017016558.1:c.295del	XP_016872047.1:p.Ser100ValfsTer4
XM_024448134.1:c.295del	XP_024303902.1:p.Ser100ValfsTer4
XM_024448135.1:c.310del	XP_024303903.1:p.Ser105ValfsTer4
XR_001747185.2:n.999del
XR_001747187.1:n.635del
XR_930515.2:n.999del
NM_001033855.3:c.655del MANE Select	NP_001029027.1:p.Ser220ValfsTer4
NM_001033857.3:c.295del	NP_001029029.1:p.Ser100ValfsTer4
NM_001033858.3:c.295del	NP_001029030.1:p.Ser100ValfsTer4
NM_001289076.2:c.310del	NP_001276005.1:p.Ser105ValfsTer4
NM_001289077.2:c.295del	NP_001276006.1:p.Ser100ValfsTer4
NM_001289078.2:c.310del	NP_001276007.1:p.Ser105ValfsTer4
NM_001289079.2:c.295del	NP_001276008.1:p.Ser100ValfsTer4
NM_001350965.2:c.655del	NP_001337894.1:p.Ser220ValfsTer4
NM_001350966.2:c.310del	NP_001337895.1:p.Ser105ValfsTer4
NM_001350967.2:c.295del	NP_001337896.1:p.Ser100ValfsTer4
NM_022487.4:c.310del	NP_071932.2:p.Ser105ValfsTer4
NR_110297.2:n.953del
NR_146961.2:n.770del