Canonical Allele Identifier: CA916081566

Gene: DCLRE1C

Linked Data

• ClinVar Variation Id: 861704
• ClinVar RCV Id: RCV001068278
• dbSNP Id: rs1839558393

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.14934431del , CM000672.2:g.14934431del	GRCh38
NC_000010.10:g.14976430del , CM000672.1:g.14976430del	GRCh37
NC_000010.9:g.15016436del	NCBI36
NG_007276.1:g.24666del , LRG_54:g.24666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378241.6:c.*675del	ENSP00000367487.3:n.*675del
ENST00000456122.2:c.*814del	ENSP00000413180.3:n.*814del
ENST00000489161.2:c.*406del	ENSP00000513000.2:n.*406del
ENST00000492201.6:c.628del	ENSP00000512999.1:p.Tyr210MetfsTer14
ENST00000697047.1:c.628del	ENSP00000513066.1:p.Tyr210MetfsTer14
ENST00000697070.1:c.628del	ENSP00000513085.1:p.Tyr210MetfsTer14
ENST00000697071.1:c.*548del	ENSP00000513086.1:n.*548del
ENST00000697072.1:c.628del	ENSP00000513087.1:p.Tyr210MetfsTer14
ENST00000697073.1:c.*406del	ENSP00000513088.2:n.*406del
ENST00000697074.1:c.*406del	ENSP00000513089.2:n.*406del
ENST00000697075.1:c.628del	ENSP00000513090.1:p.Tyr210MetfsTer14
ENST00000697076.1:c.628del	ENSP00000513091.1:p.Tyr210MetfsTer14
ENST00000697077.1:c.*339del	ENSP00000513092.1:n.*339del
ENST00000697078.1:c.*335del	ENSP00000513093.1:n.*335del
ENST00000697079.1:n.332del
ENST00000697080.1:c.*492del	ENSP00000513094.1:n.*492del
ENST00000697081.1:c.*245del	ENSP00000513095.1:n.*245del
ENST00000697082.1:c.*814del	ENSP00000513096.1:n.*814del
ENST00000697083.1:c.*488del	ENSP00000513097.1:n.*488del
ENST00000697084.1:c.628del	ENSP00000513098.1:p.Tyr210MetfsTer14
ENST00000697085.1:c.*395del	ENSP00000513099.1:n.*395del
ENST00000697086.1:n.3065del
ENST00000697087.1:c.*548del	ENSP00000513100.1:n.*548del
ENST00000697088.1:c.*245del	ENSP00000513101.1:n.*245del
ENST00000697089.1:c.*548del	ENSP00000513102.1:n.*548del
ENST00000697090.1:n.636del
ENST00000378278.7:c.628del MANE Select	ENSP00000367527.2:p.Tyr210MetfsTer14
ENST00000357717.6:c.283del	ENSP00000350349.2:p.Tyr95MetfsTer14
ENST00000378246.6:c.283del	ENSP00000367492.2:p.Tyr95MetfsTer14
ENST00000378249.5:c.283del	ENSP00000367496.1:p.Tyr95MetfsTer14
ENST00000378254.5:c.268del	ENSP00000367502.1:p.Tyr90MetfsTer14
ENST00000378255.5:c.268del	ENSP00000367503.1:p.Tyr90MetfsTer14
ENST00000378258.5:c.268del	ENSP00000367506.1:p.Tyr90MetfsTer14
ENST00000378278.6:c.628del	ENSP00000367527.2:p.Tyr210MetfsTer14
ENST00000378289.8:c.628del	ENSP00000367538.4:p.Tyr210MetfsTer14
ENST00000396817.6:c.268del	ENSP00000380030.2:p.Tyr90MetfsTer14
ENST00000418843.5:c.190del	ENSP00000391428.1:p.Tyr64MetfsTer14
NM_001033855.2:c.628del	NP_001029027.1:p.Tyr210MetfsTer14
NM_001033857.2:c.268del	NP_001029029.1:p.Tyr90MetfsTer14
NM_001033858.2:c.268del	NP_001029030.1:p.Tyr90MetfsTer14
NM_001289076.1:c.283del	NP_001276005.1:p.Tyr95MetfsTer14
NM_001289077.1:c.268del	NP_001276006.1:p.Tyr90MetfsTer14
NM_001289078.1:c.283del	NP_001276007.1:p.Tyr95MetfsTer14
NM_001289079.1:c.268del	NP_001276008.1:p.Tyr90MetfsTer14
NM_022487.3:c.283del	NP_071932.2:p.Tyr95MetfsTer14
NR_110297.1:n.1262del
XM_006717491.2:c.283del	XP_006717554.1:p.Tyr95MetfsTer14
XM_011519616.1:c.283del	XP_011517918.1:p.Tyr95MetfsTer14
XM_011519617.1:c.283del	XP_011517919.1:p.Tyr95MetfsTer14
XM_011519618.1:c.283del	XP_011517920.1:p.Tyr95MetfsTer14
XM_011519619.1:c.268del	XP_011517921.1:p.Tyr90MetfsTer14
XM_011519620.1:c.628del	XP_011517922.1:p.Tyr210MetfsTer14
XM_011519621.1:c.628del	XP_011517923.1:p.Tyr210MetfsTer14
XR_242702.2:n.725del
XR_930514.1:n.725del
XR_930515.1:n.725del
NM_001350965.1:c.628del	NP_001337894.1:p.Tyr210MetfsTer14
NM_001350966.1:c.283del	NP_001337895.1:p.Tyr95MetfsTer14
NM_001350967.1:c.268del	NP_001337896.1:p.Tyr90MetfsTer14
NR_146960.1:n.1050del
NR_146961.1:n.1079del
NR_146962.1:n.1050del
XM_006717491.4:c.283del	XP_006717554.1:p.Tyr95MetfsTer14
XM_011519620.3:c.628del	XP_011517922.1:p.Tyr210MetfsTer14
XM_011519621.2:c.628del	XP_011517923.1:p.Tyr210MetfsTer14
XM_017016557.1:c.283del	XP_016872046.1:p.Tyr95MetfsTer14
XM_017016558.1:c.268del	XP_016872047.1:p.Tyr90MetfsTer14
XM_024448134.1:c.268del	XP_024303902.1:p.Tyr90MetfsTer14
XM_024448135.1:c.283del	XP_024303903.1:p.Tyr95MetfsTer14
XR_001747185.2:n.972del
XR_001747187.1:n.608del
XR_930515.2:n.972del
NM_001033855.3:c.628del MANE Select	NP_001029027.1:p.Tyr210MetfsTer14
NM_001033857.3:c.268del	NP_001029029.1:p.Tyr90MetfsTer14
NM_001033858.3:c.268del	NP_001029030.1:p.Tyr90MetfsTer14
NM_001289076.2:c.283del	NP_001276005.1:p.Tyr95MetfsTer14
NM_001289077.2:c.268del	NP_001276006.1:p.Tyr90MetfsTer14
NM_001289078.2:c.283del	NP_001276007.1:p.Tyr95MetfsTer14
NM_001289079.2:c.268del	NP_001276008.1:p.Tyr90MetfsTer14
NM_001350965.2:c.628del	NP_001337894.1:p.Tyr210MetfsTer14
NM_001350966.2:c.283del	NP_001337895.1:p.Tyr95MetfsTer14
NM_001350967.2:c.268del	NP_001337896.1:p.Tyr90MetfsTer14
NM_022487.4:c.283del	NP_071932.2:p.Tyr95MetfsTer14
NR_110297.2:n.926del
NR_146961.2:n.743del